ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)

gnomAD frequency: 0.00021  dbSNP: rs148132118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396852 SCV000339706 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV001078696 SCV001028439 likely benign Cholestanol storage disease 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356386 SCV002656323 likely benign Cardiovascular phenotype 2019-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003897621 SCV004716547 likely benign CYP27A1-related condition 2021-06-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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