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Table 2 List of mutations identified in the current study

From: Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

BTD mutation Physical position (Hg19) dbSNP ARUP classification ClinVar HGMD MAF gnomAD total frequency TW biobank SIFT Polyphen − 2 ACMG criteria
c.460-1G > A chr3:15685822 NA NA NA NA NA NA NA NA NA Pathogenic (PVS1 PM2 PM3)
c.1250_1251TC > AG (p.V417E) chr3:15686613-chr3:15686614 rs750006399 / rs764811197 NA NA NA 0.0002718 (all East Asian) 0.00001989 0.000989 D PD Likely pathogenic (PM2 PM3 PP3 PP4)
c.1306G > A (p.E436K) chr3:15686669 rs749460715 NA Likely pathogenic / VUS NA 0.0004510 (all East Asian) 0.00003182 0.000989 D PD Likely pathogenic (PM2 PM3 PP3 PP5)
c.1361A > G (p.Y454C) chr3:15686724 rs397514345 Pathogenic Likely pathogenic / Pathogenic / VUS DM 0.002058 (all South Asian) 0.0002625 NA D PD Likely pathogenic (PM2 PM3 PM5 PP3 PP5)
c.1382 T > C (p.V461D) chr3:15686745 NA NA NA NA NA NA NA T B Likely Pathogenic (PM2 PM3 PP3 PP4)
c.1384delA (p.R462Gfs) chr3:15686747–15,686,747 rs397514420 Pathogenic Pathogenic DM 0.0001087 (all East Asian) 0.000007955 NA NA NA Likely Pathogenic (PVS1 PM2 PM3 PP4 PP5)
  1. NA, not found form the searched database, MAF, maximal minor allele frequency in gnomAD; D, deleterious; PD, probably damaging; VUS, uncertain significance; TW biobank, Taiwan biobank; DM, disease-causing mutation; T, tolerated; B, benign