ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11100213)_(11117013_?)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 RCV000820590 SCV000961307 pathogenic Familial hypercholesterolemia 2018-12-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). This variant has been observed to segregate with familial hypercholesterolemia (PMID: 23375686, 1609792). This variant is an out-of-frame deletion of the genomic region encompassing exons 2-12 of the LDLR gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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