ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)

gnomAD frequency: 0.00006  dbSNP: rs28934601
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445043 SCV000516019 pathogenic not provided 2025-02-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(D252G); This variant is associated with the following publications: (PMID: 27065010, 9375914, 22698809, 11668630, 31801038, 25174816, 22975760, 26361991, 28498829, 27629047, 26810761, 35805799, 10400129, 15060693, 27657684, 38299772, 39688110)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000445043 SCV000600947 pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000001978 SCV000833941 pathogenic Biotinidase deficiency 2025-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 252 of the BTD protein (p.Asp252Gly). This variant is present in population databases (rs28934601, gnomAD 0.009%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 22698809, 26810761, 27629047, 27657684, 28498829). ClinVar contains an entry for this variant (Variation ID: 1901). 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.
Fulgent Genetics, Fulgent Genetics RCV000001978 SCV000894299 pathogenic Biotinidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000001978 SCV001193864 pathogenic Biotinidase deficiency 2019-12-09 criteria provided, single submitter clinical testing NM_000060.2(BTD):c.755A>G(D252G) is classified as pathogenic in the context of biotinidase deficiency and is seen in patients with both partial and profound biotinidase deficiency. Sources cited for classification include the following: PMID 10400129, 25174816, 15060693, 22698809 and 26361991. Classification of NM_000060.2(BTD):c.755A>G(D252G) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV000001978 SCV004040977 pathogenic Biotinidase deficiency 2024-03-27 criteria provided, single submitter clinical testing
OMIM RCV000001978 SCV000022136 pathogenic Biotinidase deficiency 1997-11-28 no assertion criteria provided literature only
Natera, Inc. RCV000001978 SCV001461220 pathogenic Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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