ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002281633 SCV004428763 pathogenic Biotinidase deficiency 2024-08-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 204 of the BTD protein (p.Gly204Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of BTD-related conditions (PMID: 36198807; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Gly206Arg. ClinVar contains an entry for this variant (Variation ID: 1704286). 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.
Center of Excellence for Medical Genomics, Chulalongkorn University RCV002281633 SCV002570089 likely pathogenic Biotinidase deficiency 2002-09-08 no assertion criteria provided research

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