ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)

dbSNP: rs875989935
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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 RCV000211682 SCV000295772 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV002229200 SCV000544699 pathogenic Familial hypercholesterolemia 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met652Glyfs*16) 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). This variant is present in population databases (rs761230085, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hypercholesterolemia (PMID: 17087781). This variant is also known as 1953delTA. ClinVar contains an entry for this variant (Variation ID: 226381). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211682 SCV000268650 pathogenic Hypercholesterolemia, familial, 1 2009-03-19 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000211682 SCV000606561 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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