ClinVar Miner

Submissions for variant NM_001195799.2(LDLR):c.190+2358del (rs879254440)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237844 SCV000294539 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589330 SCV000697225 likely pathogenic Familial hypercholesterolemia 2017-05-19 criteria provided, single submitter clinical testing Variant summary: The LDLR c.230delG (p.Gly77Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent LDLR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.285C>A, p.Cys95X; c.337G>T, p.Glu113X; c.338_353delAGTTTCGCTGCCACGA, p.Glu113fs). One in silico tool predicts a damaging outcome for this variant. The variant of interest has not been found in a large, broad control population, ExAC in 121412 control chromosomes. This variant was identified in one Japanese cohort in a FH patient (Yu_Atherosclerosis_2002). In addition, one reputable database classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237844 SCV000606044 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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