ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1686C>T (p.Cys562=)

gnomAD frequency: 0.00001  dbSNP: rs762083133
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443835 SCV001646820 likely benign Hypercholesterolemia, autosomal dominant, 3 2020-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405040 SCV002712556 likely benign Cardiovascular phenotype 2021-08-07 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.
Color Diagnostics, LLC DBA Color Health RCV003581791 SCV004358824 likely benign Familial hypercholesterolemia 2021-08-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001443835 SCV004845964 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-01 criteria provided, single submitter clinical testing
GENinCode PLC RCV003581791 SCV005441518 likely benign Familial hypercholesterolemia 2023-06-01 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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