ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.340_344del (p.Phe114fs)

dbSNP: rs1057516132
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Total submissions: 5
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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 Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775240 SCV000909494 pathogenic Familial hypercholesterolemia 2022-12-09 criteria provided, single submitter clinical testing This variant deletes 5 nucleotides in exon 4 in the LDLR type A repeat 3 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. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 27596133, 34037665). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of LDLR function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV000775240 SCV001198574 pathogenic Familial hypercholesterolemia 2019-12-31 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. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). 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). This variant is not present in population databases (ExAC no frequency).
All of Us Research Program, National Institutes of Health RCV000408757 SCV004820152 pathogenic Hypercholesterolemia, familial, 1 2023-04-10 criteria provided, single submitter clinical testing 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 has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss-of-function truncation of the LDLR gene is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000408757 SCV000606091 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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