ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) (rs780316072)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237250 SCV000295426 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237250 SCV000782914 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780376 SCV000917578 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: LDLR c.1429G>A (p.Asp477Asn) results in a conservative amino acid change located in the LDLR class B repeat of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 246060 control chromosomes. This frequency is not higher than expected for a pathogenic variant in LDLR causing Familial Hypercholesterolemia (8.1e-06 vs 0.0013), allowing no conclusion about variant significance. c.1429G>A has been reported in the literature in one individual affected with Familial Hypercholesterolemia. This report does not provide unequivocal conclusions about an association of the variant with Familial Hypercholesterolemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The British Heart Foundation/LOVD has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance based solely on literature evidence that has already been considered in the current evaluation by our laboratory. Based on the evidence outlined above, the variant was classified as uncertain significance.
Color RCV001177032 SCV001341141 uncertain significance Familial hypercholesterolemia 2019-05-03 criteria provided, single submitter clinical testing
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000237250 SCV001432631 uncertain significance Familial hypercholesterolemia 1 2019-05-13 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237250 SCV000606421 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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