ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1863A>G (p.Thr621=)

dbSNP: rs768509914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001124132 SCV001283052 uncertain significance Hypercholesterolemia, familial, 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health RCV001188380 SCV001355435 likely benign Familial hypercholesterolemia 2019-04-28 criteria provided, single submitter clinical testing
Invitae RCV001188380 SCV003210996 likely benign Familial hypercholesterolemia 2022-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293889 SCV004007172 likely benign Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely 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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