ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)

dbSNP: rs2512428555
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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 RCV003041354 SCV003443167 pathogenic Familial hypercholesterolemia 2023-07-14 criteria provided, single submitter clinical testing This variant disrupts a region of the LDLR protein in which other variant(s) (p.Phe629Cys) have been determined to be pathogenic (PMID: 23375686; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects LDLR function (PMID: 29228028). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 2138230). This variant has been observed in individuals with familial hypercholesterolemia (PMID: 29228028; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.1885_1889delinsGATCATCAACC, is a complex sequence change that results in the deletion of 2 and insertion of 4 amino acid(s) in the LDLR protein (p.Phe629_Ser630delinsAspHisGlnPro).

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