ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)

gnomAD frequency: 0.00001  dbSNP: rs190386869
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021953 SCV000486548 pathogenic Biotinidase deficiency 2016-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000021953 SCV001580132 pathogenic Biotinidase deficiency 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 215 of the BTD protein (p.Leu215Phe). This variant is present in population databases (rs190386869, gnomAD 0.004%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 9396567, 9506660, 17185019, 25174816, 26361991, 27207447). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25031). 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.
MGZ Medical Genetics Center RCV000021953 SCV002580650 pathogenic Biotinidase deficiency 2022-02-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021953 SCV004211412 pathogenic Biotinidase deficiency 2023-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000021953 SCV005660280 pathogenic Biotinidase deficiency 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000021953 SCV002081558 pathogenic Biotinidase deficiency 2020-07-21 no assertion criteria provided clinical testing

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