ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11100203)_(11107534_?)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 RCV000806566 SCV000946570 pathogenic Familial hypercholesterolemia 2018-08-06 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-6 of the LDLR gene. It preserves the integrity of the reading frame. A similar deletion of exons 2-6 has been reported in individuals affected with familial hypercholesterolemia (PMID: 1319734, 2837085, 22883975). Variants that disrupt the p.Asp90 amino acid residue in LDLR have been observed in affected individuals (PMID: 25962062, 21376320, 27765764, 15823276, 16343504, 12837857). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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