ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1035G>A (p.Pro345=)

gnomAD frequency: 0.00002  dbSNP: rs767809932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525640 SCV001735814 likely benign Familial hypercholesterolemia 2020-07-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008859 SCV004836441 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037975 SCV005030895 likely benign Cardiovascular phenotype 2023-11-21 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.
GENinCode PLC RCV001525640 SCV005627223 likely benign Familial hypercholesterolemia 2025-01-10 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).

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