ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)

dbSNP: rs139829181
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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 RCV002651645 SCV003525316 uncertain significance Biotinidase deficiency 2022-08-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 189 of the BTD protein (p.Asp189Gly). This variant is present in population databases (rs139829181, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of biotinidase deficiency (PMID: 26810761). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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