ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.717C>T (p.Ala239=)

gnomAD frequency: 0.00004  dbSNP: rs370145766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001958659 SCV002236753 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370608 SCV002667010 likely benign Cardiovascular phenotype 2021-02-03 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.
Breakthrough Genomics, Breakthrough Genomics RCV004711737 SCV005257978 likely benign not provided criteria provided, single submitter not provided
GENinCode PLC RCV004820225 SCV005441498 likely benign Familial hypercholesterolemia 2023-08-24 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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