Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188005 | SCV000241608 | uncertain significance | not specified | 2014-03-11 | criteria provided, single submitter | clinical testing | The c.36_60del25 variant in the KCNQ3 gene causes a frameshift starting with codon Glycine 13, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 73 of the new reading frame, denoted p.Gly13GlufsX73. This mutation 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. The c.36_60del25 variant may be benign; however, the possibility that it is a disease-causing mutation cannot be excluded. The variant is found in KCNQ3 panel(s). |
Genomic Diagnostic Laboratory, |
RCV000188005 | SCV000257979 | uncertain significance | not specified | 2015-04-14 | criteria provided, single submitter | clinical testing |