ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) (rs1555843953)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631716 SCV000752803 likely pathogenic Long QT syndrome 2017-10-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNE1 gene (Ser68Argfs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acids of the KCNE1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNE1-related disease. A missense variant (p.Asp76Asn) that lies downstream of this variant has been determined to be pathogenic (PMID: 9354783, 9354802, 24561134, 24606995, 19716085, 9445165). This suggests that deletion of this region of the KCNE1 protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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