ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.165A>T (p.Ala55=)

gnomAD frequency: 0.00001  dbSNP: rs1277316217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182658 SCV001348172 likely benign Familial hypercholesterolemia 2019-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068326 SCV002341476 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402539 SCV002707175 likely benign Cardiovascular phenotype 2019-06-16 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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