Submissions for variant NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)

dbSNP: rs397514379

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV003474454	SCV004211417	likely pathogenic	Biotinidase deficiency	2023-10-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003474454	SCV005423261	likely pathogenic	Biotinidase deficiency	2024-10-15	criteria provided, single submitter	clinical testing	Variant summary: BTD c.594G>C (p.Glu198Asp) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251482 control chromosomes (gnomAD). c.594G>C has been reported in the literature in individuals affected with Biotinidase Deficiency with pathogenic variants in trans (e.g. Wolf_2005, Porta_2017, Sharma_2024). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 15776412, 28971021, 38299772). ClinVar contains an entry for this variant (Variation ID: 2680347). Based on the evidence outlined above, the variant was classified as likely pathogenic.