ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)

gnomAD frequency: 0.00002  dbSNP: rs375264483
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000762355 SCV000241506 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Invitae RCV000636418 SCV000757857 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 502 of the KCNQ2 protein (p.Ala502Val). This variant is present in population databases (rs375264483, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of benign familial neonatal-infantile seizures (Invitae). ClinVar contains an entry for this variant (Variation ID: 205906). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect KCNQ2 function (PMID: 35104249). 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.
CeGaT Center for Human Genetics Tuebingen RCV000762355 SCV000892663 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765494 SCV000896790 uncertain significance Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000762355 SCV003811978 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315321 SCV004015071 not provided Complex neurodevelopmental disorder no assertion provided literature only

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