ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.939C>G (p.Thr313=)

gnomAD frequency: 0.00006  dbSNP: rs534113572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460801 SCV001664681 likely benign Hypercholesterolemia, autosomal dominant, 3 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372463 SCV002688738 likely benign Cardiovascular phenotype 2022-03-04 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330981 SCV004038998 benign not specified 2023-08-01 criteria provided, single submitter clinical testing

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