ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1380C>T (p.His460=)

gnomAD frequency: 0.00004  dbSNP: rs768883894
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864493 SCV001005300 likely benign Familial hypercholesterolemia 2023-10-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000864493 SCV001359442 likely benign Familial hypercholesterolemia 2019-06-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201282 SCV001372401 likely benign not specified 2020-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381929 SCV002700978 likely benign Cardiovascular phenotype 2022-04-04 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.
All of Us Research Program, National Institutes of Health RCV004002946 SCV004820306 likely benign Hypercholesterolemia, familial, 1 2023-12-13 criteria provided, single submitter clinical testing
GENinCode PLC RCV000864493 SCV005441722 likely benign Familial hypercholesterolemia 2024-09-27 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).
Natera, Inc. RCV000864493 SCV002086419 likely benign Familial hypercholesterolemia 2021-02-16 no assertion criteria provided clinical testing

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