ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)

gnomAD frequency: 0.00215  dbSNP: rs140842830
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180530 SCV000232992 benign not specified 2015-06-05 criteria provided, single submitter clinical testing
Invitae RCV000967664 SCV001115066 likely benign Cholestanol storage disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001546144 SCV001765612 likely benign not provided 2021-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390444 SCV002702401 benign Cardiovascular phenotype 2021-05-10 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV001546144 SCV004151406 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CYP27A1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003937640 SCV004748537 likely benign CYP27A1-related disorder 2019-06-19 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).
Clinical Genetics, Academic Medical Center RCV001546144 SCV001921639 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001546144 SCV001975665 likely benign not provided no assertion criteria provided clinical testing

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