ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11100213)_(11107528_?)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 RCV000805901 SCV000945876 pathogenic Familial hypercholesterolemia 2021-08-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with familial hypercholesterolemia (PMID: 1319734, 2837085, 22883975). This variant disrupts the p.Asp90 amino acid residue in LDLR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12837857, 15823276, 16343504, 21376320, 25962062, 27765764). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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