ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.286C>T (p.His96Tyr)

dbSNP: rs776422082
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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 RCV001952312 SCV002187559 uncertain significance Biotinidase deficiency 2021-04-02 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces histidine with tyrosine at codon 116 of the BTD protein (p.His116Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs776422082, ExAC 0.007%). This variant has not been reported in the literature in individuals 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.

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