ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)

gnomAD frequency: 0.00013  dbSNP: rs751334184
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730650 SCV000241528 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Invitae RCV000477029 SCV000543189 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 605 of the KCNQ2 protein (p.Thr605Ser). This variant is present in population databases (rs751334184, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 205924). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Eurofins Ntd Llc (ga) RCV000730650 SCV000858402 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408840 SCV002711970 likely benign Inborn genetic diseases 2017-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Channelopathy-Associated Epilepsy Research Center RCV003315325 SCV004015033 not provided Complex neurodevelopmental disorder no assertion provided literature only

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