ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.378del (p.Phe126fs)

dbSNP: rs1555803213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235875 SCV001408581 pathogenic Familial hypercholesterolemia 2021-07-28 criteria provided, single submitter clinical testing 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: 440565). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe126Leufs*80) in the LDLR gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002367700 SCV002625810 pathogenic Cardiovascular phenotype 2020-07-24 criteria provided, single submitter clinical testing The c.378delC variant, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 378, causing a translational frameshift with a predicted alternate stop codon (p.F126Lfs*80). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508704 SCV000606100 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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