ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1422C>T (p.Val474=)

gnomAD frequency: 0.00001  dbSNP: rs373517174
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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 RCV001479038 SCV001683329 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396139 SCV002698634 likely benign Cardiovascular phenotype 2019-12-18 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.
Fulgent Genetics, Fulgent Genetics RCV001479038 SCV002799974 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-10-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001479038 SCV004823450 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-10-02 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820204 SCV005441509 likely benign Familial hypercholesterolemia 2023-05-29 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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