ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys)

gnomAD frequency: 0.00003  dbSNP: rs774127681
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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) RCV000291656 SCV000344988 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Invitae RCV001850467 SCV002158588 uncertain significance Cholestanol storage disease 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 429 of the CYP27A1 protein (p.Tyr429Cys). This variant is present in population databases (rs774127681, gnomAD 0.03%). 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: 290429). 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.
PreventionGenetics, part of Exact Sciences RCV003430826 SCV004118461 uncertain significance CYP27A1-related condition 2023-09-20 criteria provided, single submitter clinical testing The CYP27A1 c.1286A>G variant is predicted to result in the amino acid substitution p.Tyr429Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-219679290-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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