ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.313+1G>C (rs112029328)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844754 SCV000271389 pathogenic Familial hypercholesterolemia - homozygous 2016-01-11 criteria provided, single submitter clinical testing The c.313+1G>C variant in LDLR has been identified in >80 Spanish individuals wi th familial hypercholesterolemia (FH; Tejedor 2011), and was absent from large p opulation studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Heterozygous loss of LDLR function is an establis hed disease mechanism in FH. In summary, this variant meets our criteria to be c lassified as pathogenic for FH in an autosomal dominant manner.
LDLR-LOVD, British Heart Foundation RCV000213674 SCV000294605 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000213674 SCV000322889 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles; 0/32 normolipidemic individuals; 0/60 healthy control individuals
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000213674 SCV000503134 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Fundacion Hipercolesterolemia Familiar RCV000213674 SCV000607444 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000213674 SCV000606075 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Iberoamerican FH Network RCV000213674 SCV000748173 pathogenic Familial hypercholesterolemia 2016-03-01 no assertion criteria provided research

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