Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188007 | SCV000241610 | uncertain significance | not specified | 2013-06-24 | criteria provided, single submitter | clinical testing | p.Gly22_Gly24dup (G22_G24dup) in exon 1 of the KCNQ3 gene (NM_004519.2) The c.63_71dupAGGCGGCGG substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame duplication of three amino acids in a poorly conserved region of the protein where the number of Glycine residues is known to vary through evolution. Therefore, based on the currently available information, it is unclear whether c.63_71dupAGGCGGCGG is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |
Invitae | RCV001061835 | SCV001226594 | uncertain significance | Benign neonatal seizures | 2022-08-10 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 206001). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.63_71dup, results in the insertion of 3 amino acid(s) of the KCNQ3 protein (p.Gly22_Gly24dup), but otherwise preserves the integrity of the reading frame. |