ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)

dbSNP: rs762757117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492955 SCV000581976 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in nearby residues reported in the Human Gene Mutation Database (HGMD); Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Labcorp Genetics (formerly Invitae), Labcorp RCV000689556 SCV000817211 uncertain significance Biotinidase deficiency 2023-02-18 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 293 of the BTD protein (p.Gly293Arg). This variant is present in population databases (rs762757117, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 429412). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Centogene AG - the Rare Disease Company RCV000689556 SCV002059412 uncertain significance Biotinidase deficiency 2020-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000689556 SCV002081565 uncertain significance Biotinidase deficiency 2021-01-16 no assertion criteria provided clinical testing

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