ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11226750)_(11231218_?)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 RCV004581012 SCV005063555 pathogenic Familial hypercholesterolemia 2023-12-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11-14 of the LDLR gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). A similar copy number variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 7903864, 15936313, 29353225). For these reasons, this variant has been classified as Pathogenic.

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