ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His)

gnomAD frequency: 0.00001  dbSNP: rs758074713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696895 SCV000574298 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV001227228 SCV001399578 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-05-25 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 424483). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 432 of the KCNQ2 protein (p.Arg432His).

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