ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.27_35dup (p.Gly13_Gly14insAlaAlaGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003859189 SCV004659804 uncertain significance Benign neonatal seizures 2023-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This variant, c.27_35dup, results in the insertion of 3 amino acid(s) of the KCNQ3 protein (p.Ala11_Gly13dup), but otherwise preserves the integrity of the reading frame.

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