ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)

dbSNP: rs1601566366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803144 SCV000943005 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-06-01 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: 648423). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1729_1734dup, results in the insertion of 2 amino acid(s) of the KCNQ2 protein (p.Asp577_Met578dup), but otherwise preserves the integrity of the reading frame.

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