ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met)

gnomAD frequency: 0.00009  dbSNP: rs375833070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000999070 SCV000583339 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32086284)
CeGaT Center for Human Genetics Tuebingen RCV000999070 SCV001155477 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001058731 SCV001223322 uncertain significance Benign neonatal seizures 2022-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 746 of the KCNQ3 protein (p.Thr746Met). 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 missense change has been observed in individual(s) with focal epilepsy (PMID: 32086284). ClinVar contains an entry for this variant (Variation ID: 430518). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCNQ3 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.

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