ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1186+11G>A

dbSNP: rs879254822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237407 SCV000295268 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000864649 SCV001005478 likely benign Familial hypercholesterolemia 2023-08-14 criteria provided, single submitter clinical testing
GeneDx RCV002225535 SCV002504161 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226266 SCV003922714 uncertain significance not specified 2023-03-21 criteria provided, single submitter clinical testing Variant summary: LDLR c.1186+11G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. One in-silico tool predicts a benign effect on splicing for this variant (Trap Score: 0.019). The variant allele was found at a frequency of 4e-06 in 248464 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1186+11G>A has been reported in the literature in an individual who had plasma cholesterol in the 20th percentile (example: Alharbi_ 2005). This report does not provide unequivocal conclusions about association of the variant with Familial Hypercholesterolemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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