ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)

dbSNP: rs59443548
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712500 SCV000843003 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV001082527 SCV001122641 benign Cholestanol storage disease 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082527 SCV001298550 likely benign Cholestanol storage disease 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000712500 SCV001767759 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001082527 SCV002799979 likely benign Cholestanol storage disease 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303205 SCV003998882 benign Cardiovascular phenotype 2023-05-05 criteria provided, single submitter clinical testing This alteration is classified as 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.
Clinical Genetics, Academic Medical Center RCV000712500 SCV001921107 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726318 SCV001965757 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.