ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371240 SCV002687504 uncertain significance Cardiovascular phenotype 2024-05-26 criteria provided, single submitter clinical testing The c.91G>A (p.A31T) alteration is located in exon 3 (coding exon 1) of the KCNE1 gene. This alteration results from a G to A substitution at nucleotide position 91, causing the alanine (A) at amino acid position 31 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004721061 SCV005327287 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Roden Lab, Vanderbilt University Medical Center RCV004779323 SCV005393012 not provided Long QT syndrome 5 no assertion provided in vitro

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