Submissions for variant NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)

gnomAD frequency: 0.00004  dbSNP: rs189703190

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000945842	SCV001091903	benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000945842	SCV001261266	likely benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003413748	SCV004126840	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KCNMA1: BP4, BP7