ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.562del (p.Tyr188fs)

dbSNP: rs879254575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238339 SCV000294793 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479079 SCV004223437 pathogenic Familial hypercholesterolemia 2023-11-07 criteria provided, single submitter clinical testing Variant summary: LDLR c.562delT (p.Tyr188ThrfsX18) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251304 control chromosomes (gnomAD v2 Exomes dataset). c.562delT has been reported in the literature in individuals affected with Familial Hypercholesterolemia (e.g., Chiou_2010). These data suggest the variant is very likely to be associated with disease. The following publication was ascertained in the context of this evaluation (PMID: 20538126). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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