ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11213320)_(11218210_?)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 RCV001951570 SCV002244602 pathogenic Familial hypercholesterolemia 2023-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that a similar copy number variant affects LDLR function (PMID: 9684750). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. A similar copy number variant has been observed in individuals with familial hypercholesterolemia (PMID: 9684750, 16250003, 16792510, 32770674; Invitae). It has also been observed to segregate with disease in related individuals. This variant results in a copy number gain of the genomic region encompassing exon(s) 3-6 of the LDLR gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

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