ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11223948)_(11241997_?)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 RCV001388220 SCV001589100 pathogenic Familial hypercholesterolemia 2016-08-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 9-18 of the LDLR gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated LDLR protein. Loss-of-function variants in LDLR are known to be pathogenic. This particular variant encompassing exons 9-18 has been reported in the literature in individuals with familial hypercholesterolemia (PMID: 20809525). In addition, similar large deletions affecting the last exon have been reported in the literature (PMID: 9974426, 1319734, 15936313, 16792510, 17142622, 18239150, 23375686). For these reasons, this variant has been classified as Pathogenic.

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