ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)

dbSNP: rs1800171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Roden Lab, Vanderbilt University Medical Center RCV002298736 SCV002588733 likely pathogenic Long QT syndrome 1 2022-10-05 criteria provided, single submitter research The KCNQ1 c.1032G>T variant occurs at the same nucleotide as the known splice-disrupting variant c.1032G>A (PMID: 29857160). The variant was observed in 1 cases of LQTS and was absent from large population databases (PMID: 32893267). There was a strong in silico prediction of variant-induced aberrant splicing. Minigene functional studies revealed multiple out-of-frame pseudoexon inclusions. These data collectively enable the classification of this variant as Likely Pathogenic.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678813 SCV000804999 likely pathogenic Long QT syndrome 2015-11-11 no assertion criteria provided clinical testing

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