ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)

gnomAD frequency: 0.00004  dbSNP: rs587780366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344853 SCV001538935 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 761 of the KCNQ2 protein (p.Ala761Ser). 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 juvenile absence epilepsy (PMID: 10363917). This variant is also known as A733S. ClinVar contains an entry for this variant (Variation ID: 1041104). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCNQ2 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.
GeneDx RCV001568426 SCV001792292 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988569 SCV005608359 uncertain significance Inborn genetic diseases 2024-08-02 criteria provided, single submitter clinical testing The c.2281G>T (p.A761S) alteration is located in exon 17 (coding exon 17) of the KCNQ2 gene. This alteration results from a G to T substitution at nucleotide position 2281, causing the alanine (A) at amino acid position 761 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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