ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)

dbSNP: rs774018881
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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 RCV001308421 SCV001497870 uncertain significance Biotinidase deficiency 2020-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BTD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 506 of the BTD protein (p.Leu506Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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