ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.864C>T (p.Pro288=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002449637 SCV002683316 likely benign Cardiovascular phenotype 2018-09-17 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 RCV003581848 SCV004358048 likely benign Familial hypercholesterolemia 2023-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003776523 SCV004675399 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-02-24 criteria provided, single submitter clinical testing
GENinCode PLC RCV003581848 SCV005441500 likely benign Familial hypercholesterolemia 2024-05-28 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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