ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.941-?_1060+?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 RCV000459722 SCV000563833 pathogenic Hypercholesterolemia, familial, 1 2016-08-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 7 of the LDLR gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LDLR are known to be pathogenic (PMID: 21868016). For these reasons, this variant has been classified as Pathogenic.
Fundacion Hipercolesterolemia Familiar RCV000459722 SCV000607529 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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