Submissions for variant NM_172107.4(KCNQ2):c.2159_2173del (p.Pro720_Pro724del)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV005189601	SCV005828856	uncertain significance	Early infantile epileptic encephalopathy with suppression bursts	2024-09-12	criteria provided, single submitter	clinical testing	This variant, c.2159_2173del, results in the deletion of 5 amino acid(s) of the KCNQ2 protein (p.Pro720_Pro724del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the KCNQ2 protein in which other variant(s) (p.Pro724Leu) have been observed in individuals with KCNQ2-related conditions (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.