ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)

gnomAD frequency: 0.00001  dbSNP: rs372844636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508413 SCV000600945 pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000021950 SCV001416923 pathogenic Biotinidase deficiency 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 211 of the BTD protein (p.Arg211Cys). This variant is present in population databases (rs372844636, gnomAD 0.005%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 10400129, 17185019, 25754625, 26810761, 27329734). ClinVar contains an entry for this variant (Variation ID: 25028). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
Fulgent Genetics, Fulgent Genetics RCV000021950 SCV002797916 pathogenic Biotinidase deficiency 2022-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021950 SCV004211402 pathogenic Biotinidase deficiency 2023-10-20 criteria provided, single submitter clinical testing
Counsyl RCV000021950 SCV001132344 likely pathogenic Biotinidase deficiency 2015-08-26 no assertion criteria provided clinical testing
Natera, Inc. RCV000021950 SCV002081557 pathogenic Biotinidase deficiency 2020-04-14 no assertion criteria provided clinical testing

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