ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1911C>T (p.Ser637=)

gnomAD frequency: 0.00001  dbSNP: rs373570349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237872 SCV000295751 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237872 SCV000322986 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Color Diagnostics, LLC DBA Color Health RCV000775080 SCV000909184 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000775080 SCV001732000 benign Familial hypercholesterolemia 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411106 SCV002720564 benign Cardiovascular phenotype 2021-12-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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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