ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) (rs1554958045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital RCV000656433 SCV000490111 pathogenic Jervell and Lange-Nielsen syndrome 1 2017-01-05 no assertion criteria provided clinical testing The single nucleotide substitution results in a nonsense mutation. This mutation was found homozygously in the KCNQ1 gene of the proband. The proband is clinically diagnosed with Jervell and Lange-Nielsen Syndrome, because of congenital deafness, syncope and prolonged QT interval.

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