ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)

dbSNP: rs80338686
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409281 SCV000486616 likely pathogenic Biotinidase deficiency 2016-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623390 SCV000742654 pathogenic Inborn genetic diseases 2017-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409281 SCV000754945 pathogenic Biotinidase deficiency 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 538 of the BTD protein (p.Arg538Ser). This variant is present in population databases (rs80338686, gnomAD 0.03%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 22698809; internal data). ClinVar contains an entry for this variant (Variation ID: 203642). 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%. This variant disrupts the p.Arg538 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9099842, 26810761, 27207447). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Arcensus RCV000409281 SCV002564594 pathogenic Biotinidase deficiency 2013-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409281 SCV004211392 pathogenic Biotinidase deficiency 2024-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000409281 SCV005660306 likely pathogenic Biotinidase deficiency 2024-05-31 criteria provided, single submitter clinical testing

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