ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs)

dbSNP: rs1584842021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817168 SCV000957714 pathogenic Long QT syndrome 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the KCNH2 protein in which other variant(s) (p.Pro1086Alafs*33) have been determined to be pathogenic (PMID: 19716085, 19841300, 21483829; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 660047). This variant is also known as Ser1057fs/60. This premature translational stop signal has been observed in individual(s) with long QT syndrome (PMID: 19841300). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1057Glufs*62) in the KCNH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the KCNH2 protein.

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