ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11241937)_(11241992_?)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 RCV002010286 SCV002278964 pathogenic Familial hypercholesterolemia 2022-08-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18 of the LDLR gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individuals with clinical features of familial hypercholesterolemia (PMID: 16159606; Invitae). It has also been observed to segregate with disease in related individuals. This variant disrupts a region of the LDLR protein in which other variant(s) (p.Arg850Lys) have been observed in individuals with LDLR-related conditions (PMID: 16542394). 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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