ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11127988)_(11128105_?)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 RCV000708177 SCV000837287 pathogenic Hypercholesterolemia, familial, 1 2018-01-12 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 16 of the LDLR gene. It preserves the integrity of the reading frame. A similar deletion of exon 16 has been reported in several individuals affected with familial hypercholesterolemia (PMID: 1978682, 7749819, 19446849). Experimental studies have shown that a deletion of exon 16 results in reduced LDL-receptor ligand binding (PMID: 7749819). For these reasons, this variant has been classified as Pathogenic.

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