ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)

gnomAD frequency: 0.00001  dbSNP: rs397514431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022026 SCV000630331 pathogenic Biotinidase deficiency 2023-08-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 25101). This missense change has been observed in individual(s) with clinical features of biotinidase deficiency (PMID: 10400129; 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 (rs397514431, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 540 of the BTD protein (p.Tyr540Cys).

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