ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-152C>T

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237330 SCV000294380 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237330 SCV000588474 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000237330 SCV000752416 likely pathogenic Familial hypercholesterolemia 1 2017-10-02 criteria provided, single submitter clinical testing This sequence change falls in the 5'UTR of the LDLR gene. It does not change the encoded amino acid sequence of the LDLR protein, but has been reported to affect transcription. This variant has been reported in several individuals affected with familial hypercholesterolemia (PMID: 10484771, 11005141, 16542394, Invitae). ClinVar contains an entry for this variant (Variation ID: 250945). Experimental studies have shown that this 5' UTR change results in reduced promoter activity (PMID: 10484771). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000237330 SCV001432656 uncertain significance Familial hypercholesterolemia 1 2019-03-03 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237330 SCV000605984 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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