ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.786C>T (p.Ser262=)

gnomAD frequency: 0.00006  dbSNP: rs763759839
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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 RCV001189170 SCV001356402 likely benign Familial hypercholesterolemia 2019-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427307 SCV001629982 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001427307 SCV004838543 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986918 SCV005472618 likely benign Cardiovascular phenotype 2024-08-23 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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