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Table 1 Information of NF1 pathogenic variants identified in 75 CPT cases

From: Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Sample ID Exon position Nucleotide Changea Amino Acid Changea ACMG Criteria Novel / Known Variation PMID Reported CPT
71A exon 4 c.289C > T p.(Gln97*) Pathogenic Novel  
17A exon 5 c.499_502del p.(Cys167Glnfs*10) Pathogenic ClinVar  
5A, 5B exon 5 c.503C > G p.(Ser168*) Pathogenic ClinVar  
51A exon 6 c.643del p.(Ser215Alafs*10) Pathogenic Novel  
26A exon 6 c.654 + 1G > A   Pathogenic Novel  
47A exon 8 c.731-2A > C   Pathogenic Novel  
48A exon 8 c.786_787insTT p.(Lys263Leufs*19) Pathogenic Novel  
22A exon 9 c.1019_1020del p.(Ser340Cysfs*12) Pathogenic Novel  
44A, 45A exon 11 c.1198C > T p.(Gln400*) Pathogenic Novel  
29A exon 13 c.1466A > G p.(Tyr489Cys) Pathogenic ClinVarb 23668869
6A exon 14 c.1603C > T p.(Gln535*) Pathogenic Novel  
52A exon 17 c.1885G > A p.(Gly629Arg) Pathogenic ClinVar  
23A exon 17 c.1992dup p.(Ser665Leufs*5) Pathogenic Novel  
36A exon 18 c.2019C > A p.(Cys673*) Pathogenic Novel  
54A exon 18 c.2033dup p.(Ile679Aspfs*21) Pathogenic Novel  
24A exon 18 c.2044C > T p.(Gln682*) Pathogenic Novel  
43A exon 20 c.2330G > C p.(Trp777Ser) Likely pathogenic ClinVar  
74A exon 22 c.2947del p.(Leu983*) Pathogenic Novel  
37A, 75A exon 23 c.3113 + 1G > A   Pathogenic ClinVar  
41A exon 24 c.3187_3188insTA p.(Cys1063Leufs*15) Pathogenic Novel  
18A exon 28 c.3712G > T p.(Glu1238*) Pathogenic ClinVar  
72A exon 29 c.3916C > T p.(Arg1306*) Pathogenic ClinVar  
59A exon 35 c.4600C > T p.(Arg1534*) Pathogenic ClinVarb 23668869
64A exon 36 c.4756_4772del p.(Ala1586Tyrfs*30) Pathogenic Novel  
27A exon 37 c.5046delinsGGTTAC p.(Cys1682Trpfs*18) Pathogenic Novel  
2A exon 37 c.5130del p.(Cys1711Valfs*9) Pathogenic Novel  
7A exon 37 c.5199dup p.(Glu1734Argfs*23) Pathogenic Novel  
31A exon 38 c.5392C > T p.(Gln1798*) Pathogenic Novel  
55A exon 39 c.5697 T > A p.(Cys1899*) Pathogenic Novel  
62A exon 40 c.5902C > T p.(Arg1968*) Pathogenic ClinVarb 24232412
3A exon 40 c.5980_5983del p.(Ala1994Lysfs*17) Pathogenic Novel  
39A exon 42 c.6401_6402del p.(Cys2134Tyrfs*8) Pathogenic Novel  
53A exon 45 c.6772C > T p.(Arg2258*) Pathogenic ClinVar  
1A exon 45 c.6819 + 1_6825del   Pathogenic Novel  
50A exon 46 c.6854dup p.(Tyr2285*) Pathogenic ClinVar  
4A exon 48 c.7159_7164del p.(Asn2387_Phe2388del) Pathogenic Clinvarc  
40A exon 54 c.7898del p.(Glu2633Glyfs*11) Pathogenic Novel  
56A exon 54 c.7909C > T p.(Arg2637*) Pathogenic ClinVarb 16773574
10A exon 1–58 c.-383_*3522del p.0 Pathogenic ClinVar  
15A exon 13–30 c.1393_4110del p.(Ser465_Gln1370del) Pathogenic Novel  
35A exon 36–58 c.4725_*3522del p.? Pathogenic Novel  
  1. aPosition annotated based on NF1 transcript 1 (GenBank: NM_001042492.2, GenPept: NP_001035957.1)
  2. bOnly one case reported having tibial pseudarthrosis
  3. cSame variant position but different variant types
  4. PMID PubMed ID