ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11089529)_(11100365_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631385 SCV000752456 pathogenic Hypercholesterolemia, familial, 1 2018-01-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the LDLR gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the LDLR gene. This is expected to result in an absent or disrupted protein product. Similar deletions of exons 1-2 have been reported in individuals affected with familial hypercholesterolemia (PMID: 8678915, 11298777, 20145306, 16286607). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.

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