ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11113272)_(11120528_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707861 SCV000836971 pathogenic Hypercholesterolemia, familial, 1 2018-05-03 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 9-14 of the LDLR gene. It preserves the integrity of the reading frame. Deletion of exons 9-14 in LDLR have been reported in individuals affected with familial hypercholesterolemia (PMID: 16796766, 18325082). This deletion is expected to disrupt the EGF-like domain of the LDLR protein, which is required for ligand binding and release (PMID: 22081141). Numerous missense variants in the deleted region have been determined to be clinically significant (PMID: 18325082, 1301956, 19717150, 22698793, Invitae). This suggests that deletion of this region of the LDLR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001388219 SCV001589099 pathogenic Familial hypercholesterolemia 2018-04-19 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 9-14 of the LDLR gene. It preserves the integrity of the reading frame. Deletion of exons 9-14 in LDLR have been reported in individuals affected with familial hypercholesterolemia (PMID: 16796766, 18325082). This deletion is expected to disrupt the EGF-like domain of the LDLR protein, which is required for ligand binding and release (PMID: 22081141). Numerous missense variants in the deleted region have been determined to be clinically significant (PMID: 18325082, 1301956, 19717150, 22698793, Invitae). This suggests that deletion of this region of the LDLR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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