ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11102654)_(11106697_?)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 RCV001032769 SCV001196076 pathogenic Familial hypercholesterolemia 2019-03-29 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the LDLR gene. It preserves the integrity of the reading frame. This variant has been observed in an individual affected with familial hypercholesterolemia (PMID: 12837857). This variant is also known as Del e3-5 in the literature. This variant disrupts cysteine residues located within an LDLRA or epidermal-growth-factor (EGF)-like domain of the LDLR protein. Cysteine residues in these domains have been shown to be involved in the formation of disulfide bridges, which are critical for protein structure and stability (PMID: 7548065, 7603991, 7979249). In addition, missense substitutions within the LDLRA and EGF-like domains affecting cysteine residues are overrepresented among patients with hypercholesterolemia (PMID: 18325082). This variant has been reported to affect LDLR protein function (PMID: 12837857). For these reasons, this variant has been classified as Pathogenic.

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