ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1735C>T (p.Leu579=)

gnomAD frequency: 0.00002  dbSNP: rs751217094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183784 SCV001349609 likely benign Familial hypercholesterolemia 2019-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067942 SCV002487938 likely benign Hypercholesterolemia, autosomal dominant, 3 2022-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411694 SCV002715717 likely benign Cardiovascular phenotype 2021-05-15 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 RCV002067942 SCV004846402 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-09-23 criteria provided, single submitter clinical testing

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