ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)

gnomAD frequency: 0.00001  dbSNP: rs767750851
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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 RCV002027967 SCV002315822 uncertain significance Biotinidase deficiency 2021-01-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs767750851, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BTD-related conditions. This sequence change replaces phenylalanine with leucine at codon 217 of the BTD protein (p.Phe217Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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