ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.108C>T (p.Asp36=)

gnomAD frequency: 0.00006  dbSNP: rs373144619
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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 RCV001181332 SCV001346455 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201281 SCV001372400 likely benign not specified 2020-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001181332 SCV001668391 likely benign Familial hypercholesterolemia 2024-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446987 SCV002734058 likely benign Cardiovascular phenotype 2019-11-28 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 RCV000508706 SCV004820115 likely benign Hypercholesterolemia, familial, 1 2023-05-31 criteria provided, single submitter clinical testing
GENinCode PLC RCV001181332 SCV005441709 likely benign Familial hypercholesterolemia 2023-10-20 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).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508706 SCV000606017 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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