ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) (rs563390335)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211634 SCV000294594 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000211634 SCV000540907 pathogenic Familial hypercholesterolemia 1 2017-03-27 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211634 SCV000583651 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211634 SCV000599323 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Robarts Research Institute,Western University RCV000211634 SCV000782945 pathogenic Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV000819308 SCV000959961 pathogenic Familial hypercholesterolemia 2019-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln102*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs563390335, ExAC 0.001%). This variant has been observed to segregate with familial hypercholesterolemia in a family (PMID: 17196209) and has been reported in individuals affected with this condition (PMID: 1301956, 28965616, 18096825, 20045108) and in an individual affected with myocardial infarction (PMID: 25487149). This variant is also known as Q81X and FH Raponi in the literature. ClinVar contains an entry for this variant (Variation ID: 226314). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211634 SCV000268551 pathogenic Familial hypercholesterolemia 1 2015-11-27 no assertion criteria provided clinical testing

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