ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.267G>A (p.Ser89=)

gnomAD frequency: 0.00008  dbSNP: rs373551845
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771322 SCV000903589 likely benign Familial hypercholesterolemia 2018-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864864 SCV001005732 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303241 SCV003997138 likely benign Cardiovascular phenotype 2023-05-21 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.
All of Us Research Program, National Institutes of Health RCV000864864 SCV004844166 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-18 criteria provided, single submitter clinical testing
GENinCode PLC RCV000771322 SCV005627227 likely benign Familial hypercholesterolemia 2025-01-09 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240550 SCV005884808 benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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