Submissions for variant NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup)

dbSNP: rs759136661

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597938	SCV000701449	uncertain significance	not provided	2017-01-06	criteria provided, single submitter	clinical testing
Invitae	RCV001038765	SCV001202255	uncertain significance	Generalized epilepsy-paroxysmal dyskinesia syndrome	2023-12-18	criteria provided, single submitter	clinical testing	This variant, c.31_48dup, results in the insertion of 6 amino acid(s) of the KCNMA1 protein (p.Ser11_Gly16dup), but otherwise preserves the integrity of the reading frame. 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 variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 497141). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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	RCV000597938	SCV001982647	uncertain significance	not provided	2021-10-06	criteria provided, single submitter	clinical testing	In-frame insertion of 6 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000597938	SCV002497048	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KCNMA1: PM2, BP3