ClinVar Miner

Submissions for variant NM_001195800.2(LDLR):c.314-2146_314-2142del (rs1057516132)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408757 SCV000484806 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Color RCV000775240 SCV000909494 pathogenic Familial hypercholesterolemia 2018-08-12 criteria provided, single submitter clinical testing Pathogenic variant based on current evidence: This variant deletes five nucleotides in exon 4 of the LDLR gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Loss-of-function truncation variants in the LDLR gene are known to be pathogenic (PMID: 20809525). Based on available evidence, this variant is classified as Pathogenic.
Invitae RCV000775240 SCV001198574 pathogenic Familial hypercholesterolemia 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe114Leufs*14) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDLR-related conditions. ClinVar contains an entry for this variant (Variation ID: 369870). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000408757 SCV000606091 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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