ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.580C>A (p.Arg194=)

dbSNP: rs200027662
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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 RCV001179782 SCV001344556 likely benign Familial hypercholesterolemia 2019-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356837 SCV002649023 likely benign Cardiovascular phenotype 2022-08-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235485 SCV003934240 likely benign not specified 2023-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003500648 SCV004263875 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003500648 SCV004840458 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-11 criteria provided, single submitter clinical testing

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