ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)

gnomAD frequency: 0.00001  dbSNP: rs1203579586
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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 RCV001983369 SCV002239564 uncertain significance Cholestanol storage disease 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 19 of the CYP27A1 protein (p.Gly19Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. 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: "Not Available"; 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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