ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)

dbSNP: rs2081379814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242327 SCV001415407 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-11-16 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. This sequence change replaces alanine with threonine at codon 148 of the KCNQ2 protein (p.Ala148Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
PreventionGenetics, part of Exact Sciences RCV004538505 SCV004114240 uncertain significance KCNQ2-related disorder 2022-09-29 criteria provided, single submitter clinical testing The KCNQ2 c.442G>A variant is predicted to result in the amino acid substitution p.Ala148Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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