ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1530G>A (p.Thr510=)

gnomAD frequency: 0.00019  dbSNP: rs367655096
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000776527 SCV000752447 likely benign Familial hypercholesterolemia 2024-11-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776527 SCV000912123 likely benign Familial hypercholesterolemia 2018-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404738 SCV002708269 likely benign Cardiovascular phenotype 2016-07-01 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 RCV003330846 SCV004038294 likely benign not specified 2023-08-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003810 SCV004822471 likely benign Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing
GENinCode PLC RCV000776527 SCV005441727 likely benign Familial hypercholesterolemia 2024-05-01 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 conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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