ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.17C>T (p.Thr6Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004626563 SCV005122525 uncertain significance Cardiovascular phenotype 2024-04-04 criteria provided, single submitter clinical testing The p.T6I variant (also known as c.17C>T), located in coding exon 1 of the KCNE1 gene, results from a C to T substitution at nucleotide position 17. The threonine at codon 6 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Roden Lab, Vanderbilt University Medical Center RCV004780742 SCV005393285 not provided Long QT syndrome 5 no assertion provided in vitro

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