ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.636C>T (p.Asp212=)

gnomAD frequency: 0.00001  dbSNP: rs757510932
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189888 SCV001357261 likely benign Familial hypercholesterolemia 2018-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001453730 SCV001657429 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-04-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800963 SCV002046561 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356858 SCV002655238 likely benign Cardiovascular phenotype 2019-08-19 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.
CeGaT Center for Human Genetics Tuebingen RCV001800963 SCV004009848 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PCSK9: BP4, BP7
All of Us Research Program, National Institutes of Health RCV001453730 SCV004840591 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-05-31 criteria provided, single submitter clinical testing
GENinCode PLC RCV001189888 SCV005441497 likely benign Familial hypercholesterolemia 2024-10-22 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).

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