ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1947C>T (p.Ala649=)

gnomAD frequency: 0.00003  dbSNP: rs1316935112
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180963 SCV001346016 likely benign Familial hypercholesterolemia 2019-09-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280613 SCV001467832 likely benign not specified 2020-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494727 SCV001699389 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163413 SCV003867151 likely benign Cardiovascular phenotype 2022-12-06 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 RCV001494727 SCV004845325 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-09-05 criteria provided, single submitter clinical testing

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