ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2269C>T (p.Arg757Ter)

gnomAD frequency: 0.00001  dbSNP: rs779444430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366608 SCV001562916 uncertain significance Benign neonatal seizures 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg757*) in the KCNQ3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 116 amino acid(s) of the KCNQ3 protein. This variant is present in population databases (rs779444430, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1057593). 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.
GeneDx RCV003156342 SCV003845847 uncertain significance not provided 2022-09-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 116 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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