ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)

gnomAD frequency: 0.00027  dbSNP: rs149101812
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712499 SCV000707388 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712499 SCV000843002 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498426 SCV001703176 likely benign Cholestanol storage disease 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000712499 SCV002562707 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002395534 SCV002700890 likely benign Cardiovascular phenotype 2021-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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