ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.554C>T (p.Thr185Ile) (rs120074182)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182136 SCV000234439 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing The T312I variant in the KCNQ1 gene has been reported multiple times in association with LQTS (Wang Q et al., 1996; Splawski I et al., 2000; Choi G et al., 2004; Moss A et al., 2007). Wang et al. initially reported this variant (as T183I, using alternative nomenclature) in an individual with LQTS, and it was not detected in more than 200 control individuals. The T312I variant was also reported in a 9 year-old male referred for LQTS testing after an episode of near-drowning from a cardiac event, and it was absent in 1,488 reference alleles derived from 4 ethnic groups (Choi G et al., 2004). In addition, the T312I variant has been observed in other unrelated individuals tested for LQTS at GeneDx. Located in the pore domain of the protein,variants in nearby codons (T311A, T311I, I313M) have also been reported in association with LQTS. Furthermore, T312I was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, T312I in the KCNQ1 gene is interpreted as a disease-causing variants.
Color RCV001184216 SCV001350156 likely pathogenic Arrhythmia 2019-11-08 criteria provided, single submitter clinical testing
OMIM RCV000003263 SCV000023421 pathogenic Long QT syndrome 1 1996-01-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057808 SCV000089328 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:8528244;PMID:9323054;PMID:10973849;PMID:14678125;PMID:15051636;PMID:15466642;PMID:15840476;PMID:19716085;PMID:19841300;PMID:20368164;PMID:17470695;PMID:22456477). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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