ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)

dbSNP: rs879254419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238509 SCV000294489 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000238509 SCV000540719 pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Invitae RCV001857819 SCV002246581 pathogenic Familial hypercholesterolemia 2021-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251039). This variant is also known as p.Gln32X. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 16250003, 16792510). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln53*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238509 SCV000606028 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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