ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)

dbSNP: rs750363004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000714997 SCV000937094 pathogenic Biotinidase deficiency 2023-07-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 587716). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 26810761; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 194 of the BTD protein (p.Phe194Leu). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000714997 SCV004211471 likely pathogenic Biotinidase deficiency 2023-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000714997 SCV001460184 uncertain significance Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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