Total submissions: 1
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. |