ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.447C>T (p.Val149=)

gnomAD frequency: 0.00001  dbSNP: rs758997842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410440 SCV001612487 likely benign Hypercholesterolemia, autosomal dominant, 3 2018-03-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003581759 SCV004358035 likely benign Familial hypercholesterolemia 2021-11-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001410440 SCV004842181 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029511 SCV005030853 likely benign Cardiovascular phenotype 2023-11-26 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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