ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11223934)_(11234040_?)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 RCV003111353 SCV003793373 pathogenic Familial hypercholesterolemia 2022-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LDLR protein in which other variant(s) (p.Leu401Val) have been determined to be pathogenic (PMID: 9104431, 12124988, 21722902, 24507775, 25461735). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 20663204). This variant is a gross deletion of the genomic region encompassing exon(s) 9-15 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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