ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11215886)_(11221471_?)del

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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 RCV004581018 SCV005063561 pathogenic Familial hypercholesterolemia 2023-09-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of familial hypercholesterolemia (PMID: 22883975). This variant disrupts a region of the LDLR protein in which other variant(s) (p.Cys109Arg) have been determined to be pathogenic (PMID: 11313767, 14974088, 19843101, 20145306, 22698793). 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.

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