Submissions for variant NM_172107.4(KCNQ2):c.2315del (p.Pro772fs)

dbSNP: rs2079959227

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV001290204	SCV001477996	pathogenic	Seizures, benign familial neonatal, 1		criteria provided, single submitter	clinical testing	20A3648
Labcorp Genetics (formerly Invitae), Labcorp	RCV003753172	SCV004457570	pathogenic	Early infantile epileptic encephalopathy with suppression bursts	2023-04-24	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the KCNQ2 protein. Other variant(s) that result in a similarly extended protein product (p.Gly866Alafs*64) have been determined to be pathogenic (PMID: 10482260, 21937445). This suggests that these extensions are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 995954). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the KCNQ2 gene (p.Pro772Argfs*158). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 101 amino acid(s) of the KCNQ2 protein and extend the protein by 56 additional amino acid residues.