ClinVar Miner

Submissions for variant NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) (rs796052658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187933 SCV000241535 pathogenic not provided 2013-11-12 criteria provided, single submitter clinical testing The Glu749Stop nonsense mutation in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation, as the last 124 amino acids of the protein are lost. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a KCNQ2-related disorder. The variant is found in EPILEPSY panel(s).
Invitae RCV000636309 SCV000757748 uncertain significance Early infantile epileptic encephalopathy 2017-10-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNQ2 gene (p.Glu749*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 124 amino acids of the KCNQ2 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNQ2-related disease. ClinVar contains an entry for this variant (Variation ID: 205931). 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.

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