ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1011G>A (p.Gly337=)

gnomAD frequency: 0.00009  dbSNP: rs746723269
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176335 SCV001340278 likely benign Familial hypercholesterolemia 2018-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451357 SCV002616213 likely benign Cardiovascular phenotype 2021-05-15 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 RCV004006288 SCV004836397 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-06-26 criteria provided, single submitter clinical testing
GENinCode PLC RCV001176335 SCV005441505 likely benign Familial hypercholesterolemia 2023-11-30 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).
PreventionGenetics, part of Exact Sciences RCV004538401 SCV004711904 likely benign PCSK9-related disorder 2023-12-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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