Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188004 | SCV000241607 | uncertain significance | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | The c.1715dupT variant in the KCNQ3 gene causes a frameshift starting with codon Threonine 573, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Thr573HisfsX30. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, to our knowledge, all reported KCNQ3 mutations have been missense substitutions. Therefore, based on the currently available information, c.1715dupT is a strong candidate for a pathogenic variant, although the possibility that it is not benign variant cannot be excluded. |