ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)

gnomAD frequency: 0.00001  dbSNP: rs397514381
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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 RCV000021958 SCV001392320 pathogenic Biotinidase deficiency 2023-04-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 237 of the BTD protein (p.Ala237Thr). For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 25036). This missense change has been observed in individual(s) with partial 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. This variant is present in population databases (rs397514381, gnomAD 0.004%).
Baylor Genetics RCV000021958 SCV004211427 likely pathogenic Biotinidase deficiency 2023-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000021958 SCV002081562 uncertain significance Biotinidase deficiency 2021-02-15 no assertion criteria provided clinical testing

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