ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.-38T>A (rs1459786357)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford RCV000754921 SCV000787756 pathogenic Noonan syndrome 2 2019-01-30 criteria provided, single submitter research As well as lying in trans with a pathogenic allele and co-segregating with disease in the pedigree, the effect of the 5’-UTR variant c.-38T>A on the expression of LZTR1 was further investigated using a dual luciferase reporter assay, as previously described (Calvo et al 2009 PMID: 19372376). The ratio of renilla to firefly luciferase was consistently reduced to 77-85% for the mutant 5’-UTR in comparison to the WT.

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