Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753583 | SCV001988377 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | Reported in association with Long QT syndrome (Larsen et al., 2001; Stattin et al., 2012); Not observed in large population cohorts (Lek et al., 2016); In-frame duplication of three amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 11468227, 23098067) |
Labcorp Genetics |
RCV003532025 | SCV004295076 | uncertain significance | Long QT syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | This variant, c.244_252dup, results in the insertion of 3 amino acid(s) of the KCNH2 protein (p.Ile82_Gln84dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of long QT Syndrome (PMID: 11468227, 23098067; Invitae). This variant is also known as 244-252ins9 (82-84insIAQ). ClinVar contains an entry for this variant (Variation ID: 200717). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001842857 | SCV000234319 | pathogenic | Cardiac arrhythmia | 2013-12-23 | flagged submission | clinical testing | c.244_252dupATCGCGCAG: p.Ile82_Gln84dup (I82_Q84dup) in exon 2 of the KCNH2 gene (NM_000238.2). The c.244_252dupATCGCGCAG mutation in the KCNH2 gene has been reported in a single individual with LQTS and was not observed in 100 controls (Larsen L et al., 2001) . Other in-frame duplications have been reported in the KCNH2 gene in association with LQTS. In summary, c.244_252dupATCGCGCAG in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s). |