Table 2 Pathogenic COL9A3 variants reported in HGMD and associated clinical phenotypes
c.DNA position | Protein position | Exon/intron | Description | Zygosity | dbSNP | ClinVar | Reported phenotype | References |
|---|---|---|---|---|---|---|---|---|
– | – | 99 bp duplication (CNV) | Het | NA | NA | Sensorineural hearing loss | Ji (2014) BMC Ear Nose Throat Disord 14,9 | |
c.97C > T | p.(Pro33Ser) | 2 | Missense | Het | rs745914662 | NA | Cerebral palsy | Pingel (2019) Am J Med Genet B Neuropsychiatr Genet 180,12 |
c.104G > A | p.(Gly35Asp) | 2 | Missense | Het | rs1390736361 | NA | Multiple epiphyseal dysplasia | Jeong (2014) BMC Musculoskelet Disord 15,371 |
c.148-1G > A | p.? | 2 | Splicing | Het | rs606231367 | NA | Multiple epiphyseal dysplasia | Lohiniva (2000) Am J Med Genet 90,216 |
c.148-2A > G | p.? | 2 | Splicing | Het | NA | NA | Multiple epiphyseal dysplasia | Jackson (2012) Hum Mutat 33,144 |
c.148-2A > T | p.? | 2 | Splicing | Het | NA | P | Multiple epiphyseal dysplasia | Paassilta (1999) Am J Hum Genet 64,1036 |
c.183 + 5G > A | p.? | 3 | Splicing | Het | NA | P | Multiple epiphyseal dysplasia | Nakashima (2005) Am J Med Genet 132A,181 |
c.268C > T | p.(Arg90Ter) | 5 | Nonsense | Comp het | rs763259234 | NA | Stickler syndrome | Markova (2021) Mol Genet Genomic Med |
c.369 + 2T > C | p.? | 7 | Splicing | Het | rs1057518693 | P | Multiple epiphyseal dysplasia | Posey (2017) N Engl J Med 376,21 |
c.369 + 8C > G | p.? | 7 | Splicing | Het | NA | NA | Multiple epiphyseal dysplasia | Lord (2019) Genome Res 29,159 |
c.388G > A | p.(Gly130Ser) | 8 | Missense | Het | rs139401633 | VUS | Severe peripheral vitreoretinal degeneration and retinal detachment | M. Nash (2021) European Journal of Human Genetics |
c.543_551del | p.(Pro185_Gly187del) | 11 | In frame | Hom | rs765392378 | NA | Nonsyndromic hearing loss | Asamura (2005) Auris Nasus Larynx 32,113 |
c.650dup C | p.(Gly217Trpfster50) | 13 | Frameshift | Hom | NA | NA | Stickler syndrome | Hanson-Kahn (2018) Am J Med Genet A 176,2887 |
c.971A > T | p.(Asn324Ile) | 19 | Missense | Het | NA | NA | Pseudoachondroplasia | Jung (2010) Int J Mol Med 26,885 |
c.1107 + 1G > C | p.? | 21 | Splicing | Het | Severe peripheral vitreoretinal degeneration and retinal detachment | M. Nash (2021) European Journal of Human Genetics | ||
c.1176_1198del | p.(Gln393Cyster*25) | 23 | Frameshift | Hom | rs606231470 | VUS | Stickler syndrome | Faletra (2014) Am J Med Genet A 164,42 |
c.1277T > C | p.(Val426Ala) | 24 | Missense | Het | NA | NA | Pseudoachondroplasia | Jung (2010) Int J Mol Med 26,885 |
c.1361G > A | p.(Gly454Glu) | 26 | Missense | Het | NA | NA | Nonsyndromic hearing loss | Miyagawa (2013) PLoS One 8,e71381 |
c.1411C > T | p.(Arg471ter) | 28 | Nonsense | Hom | rs747896279 | P | Stickler syndrome | Nixon (2019) Am J Med Genet A 179,1498 |
c.1649C > T | p.(Pro550Leu) | 30 | Missense | Het | rs535230112 | NA | Nonsyndromic hearing loss | Miyagawa (2013) PLoS One 8, e71381 |
c.1729C > T | (p.Arg577Ter) | 30 | Nonsense | Comp het | rs1201247953 | NA | Stickler syndrome | Markova (2021) Mol Genet Genomic Med |
c.1851C > A | p.(Asp617Glu) | 31 | Missense | Het | rs199577452 | NA | Nonsyndromic hearing loss | Asamura N Auris Nasus Larynx 32,113 |