ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.262A>G (p.Ile88Val)

gnomAD frequency: 0.00009  dbSNP: rs976185636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987130 SCV001136339 likely pathogenic Biotinidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844252 SCV002103643 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing Variant summary: BTD c.262A>G (p.Ile88Val) results in a conservative amino acid change located in the carbon-nitrogen hydrolase domain (IPR003010) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249918 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.262A>G in individuals affected with Biotinidase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 801944). Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics RCV000987130 SCV004211421 likely pathogenic Biotinidase deficiency 2024-03-20 criteria provided, single submitter clinical testing

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