ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11230758)_(11240356_?)dup

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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 RCV000803276 SCV000943139 pathogenic Familial hypercholesterolemia 2019-12-04 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 13-17 of the LDLR gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. Similar duplications of exons 13-17 has been reported in several individuals affected with familial hypercholesterolemia (PMID: 28008010) and have been reported to segregate with familial hypercholesterolemia in a family (Invitae). This variant has also been described as dup_Ex13_17 in the literature. ClinVar contains an entry for this variant (Variation ID: 417372). This duplication includes functional and structural domains whose duplication would interfere with LDLR protein function (PMID: 6091915, 2988123). For these reasons, this variant has been classified as Pathogenic.

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