ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.627C>T (p.Pro209=)

gnomAD frequency: 0.00004  dbSNP: rs375892354
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391171 SCV000358227 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311424 SCV000358228 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644541 SCV000766241 likely benign Hypercholesterolemia, autosomal dominant, 3 2025-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179558 SCV001344250 likely benign Familial hypercholesterolemia 2018-07-16 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823723 SCV002073426 likely benign not specified 2022-01-18 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (297695) NM_174936.4 (PCSK9): c.627C>T (p.Pro209=) and has occurred in GnomAD with a total MAF of 0.0041% and highest MAF of 0.0348% in the East Asian population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign.
Ambry Genetics RCV002356408 SCV002655906 likely benign Cardiovascular phenotype 2020-10-29 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 RCV000644541 SCV004840558 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-30 criteria provided, single submitter clinical testing

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