ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)

dbSNP: rs1555803439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000509465 SCV000607489 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001857295 SCV002221938 pathogenic Familial hypercholesterolemia 2023-07-17 criteria provided, single submitter clinical testing This variant, c.672_686del, results in the deletion of 5 amino acid(s) of the LDLR protein (p.Asp224_Glu228del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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.Asp224Asn) have been determined to be pathogenic (PMID: 15576851, 19843101, 30876530). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 441189). This variant is also known as 670_684del D203_E207del. This variant has been observed in individual(s) with autosomal dominant hypercholesterolemia (PMID: 19827648, 30293936).

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