ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1357_1359-37del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810973 SCV000951215 likely pathogenic Familial hypercholesterolemias 2018-11-26 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 9 (c.1357_1359-37del) of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with LDLR-related disease. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). 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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