ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs)

dbSNP: rs879255131
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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 RCV000237477 SCV000295859 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237477 SCV000322999 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/200 non-FH alleles
Labcorp Genetics (formerly Invitae), Labcorp RCV005090243 SCV005838566 pathogenic Familial hypercholesterolemia 2024-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys693Valfs*23) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 16250003). ClinVar contains an entry for this variant (Variation ID: 252207). For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237477 SCV000606594 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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