ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.124G>A (p.Val42Met)

gnomAD frequency: 0.00001  dbSNP: rs397507170
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000021895 SCV001150030 pathogenic Biotinidase deficiency 2018-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000021895 SCV001227192 pathogenic Biotinidase deficiency 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 62 of the BTD protein (p.Val62Met). This variant is present in population databases (rs397507170, gnomAD 0.006%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 11313766, 15060693, 17185019, 22698809). ClinVar contains an entry for this variant (Variation ID: 38487). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BTD protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000021895 SCV002022099 likely pathogenic Biotinidase deficiency 2020-06-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021895 SCV004211397 pathogenic Biotinidase deficiency 2024-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000021895 SCV005664994 pathogenic Biotinidase deficiency 2023-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000021895 SCV001460176 pathogenic Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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