ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1186+2T>G

dbSNP: rs779921498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589074 SCV000697185 likely pathogenic Familial hypercholesterolemia 2016-04-28 criteria provided, single submitter clinical testing Variant summary: The LDLR c.1186+2T>G variant involves the alteration of a conserved nucleotide in intron 8. This variant is located at a position that is widely known to affect splicing, and 5/5 splicing prediction programs via Alamut predict the loss of a canonical splicing donor site. The variant was observed in the large and broad cohorts of the ExAC project in one individual, representing an allele frequency of 0.0008%, which does not exceed the maximal expected allele frequency for a pathogenic variant in LDLR (0.13%). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Therefore, this variant has been classified as a Probable Disease Variant/Likely Pathogenic.

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