ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11127998)_(11128095_?)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 RCV000813322 SCV000953680 pathogenic Familial hypercholesterolemia 2022-11-01 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: 7749819). 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: 1978682, 7749819, 19446849). This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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