ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2139dup (p.Ala714fs)

dbSNP: rs1554621412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687471 SCV000815036 uncertain significance Benign neonatal seizures 2018-08-11 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNQ3 cause disease. This variant has not been reported in the literature in individuals with KCNQ3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the KCNQ3 gene (p.Ala714Cysfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 159 amino acids of the KCNQ3 protein.

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