ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)

gnomAD frequency: 0.00003  dbSNP: rs781778855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187903 SCV000241505 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000187903 SCV001334873 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001857620 SCV002158993 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 469 of the KCNQ2 protein (p.Ala469Thr). This variant is present in population databases (rs781778855, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (PMID: 31957018). ClinVar contains an entry for this variant (Variation ID: 205905). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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