ClinVar Miner

Submissions for variant NC_000001.10:g.(?_25889115)_(25889664_?)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 RCV004584057 SCV005066450 pathogenic Hypercholesterolemia, familial, 4 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the LDLRAP1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in LDLRAP1 are known to be pathogenic (PMID: 11326085, 12464675).

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