ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11213330)_(11227689_?)dup

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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 RCV003111360 SCV003794172 likely pathogenic Familial hypercholesterolemia 2022-01-05 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with clinical features of familial hypercholesterolemia (PMID: 20145306). This variant results in a copy number gain of the genomic region encompassing exon(s) 3-12 of the LDLR gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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