ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)

dbSNP: rs796052656
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710150 SCV000241525 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain.; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35104249)
Athena Diagnostics Inc RCV000710150 SCV000613876 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV001207533 SCV001378890 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 586 of the KCNQ2 protein (p.Gln586Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with neonatal seizures (Invitae). ClinVar contains an entry for this variant (Variation ID: 205921). 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 disruptive. Experimental studies have shown that this missense change affects KCNQ2 function (PMID: 35104249). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000710150 SCV001715328 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315323 SCV004015030 not provided Complex neurodevelopmental disorder no assertion provided literature only

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