ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)

gnomAD frequency: 0.00003  dbSNP: rs72551318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732150 SCV000860060 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142907 SCV001303400 uncertain significance Cholestanol storage disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001142907 SCV003263281 uncertain significance Cholestanol storage disease 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 270 of the CYP27A1 protein (p.Arg270Gly). This variant is present in population databases (rs72551318, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596347). 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 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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