ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1289A>C (p.His430Pro)

dbSNP: rs559136372
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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 RCV002038794 SCV002310305 uncertain significance Biotinidase deficiency 2021-07-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BTD-related conditions. This variant is present in population databases (rs559136372, ExAC 0.01%). This sequence change replaces histidine with proline at codon 450 of the BTD protein (p.His450Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and proline. 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"). 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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