ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)

dbSNP: rs549204682
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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 RCV001942720 SCV002130603 uncertain significance Biotinidase deficiency 2021-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BTD-related conditions. 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 282 of the BTD protein (p.Ile282Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine.

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