ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1056G>A (p.Gly352=)

dbSNP: rs1304477848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183942 SCV001349791 likely benign Familial hypercholesterolemia 2020-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411695 SCV002715972 likely benign Cardiovascular phenotype 2022-03-03 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.
All of Us Research Program, National Institutes of Health RCV004807384 SCV005431398 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-08-06 criteria provided, single submitter clinical testing

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