ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer)

dbSNP: rs1600727285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003742085 SCV004500555 pathogenic Familial hypercholesterolemia 2023-08-01 criteria provided, single submitter clinical testing This variant, c.1374_1382del, is a complex sequence change that results in the deletion of 4 and insertion of 1 amino acid(s) in the LDLR protein (p.Arg458_Gly461delinsSer). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LDLR protein in which other variant(s) (p.Gly461Cys) have been determined to be pathogenic (PMID: 16465405, 35339733). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with LDLR-related conditions. This variant is not present in population databases (gnomAD no frequency).

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