ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1638C>A (p.Gly546=)

dbSNP: rs1480572702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500257 SCV001705041 likely benign Familial hypercholesterolemia 2025-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001500257 SCV001734734 likely benign Familial hypercholesterolemia 2020-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995912 SCV005609335 likely benign Cardiovascular phenotype 2024-10-08 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.

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