Submissions for variant NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)

gnomAD frequency: 0.00041  dbSNP: rs147369374

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000273227	SCV000340691	likely benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407683	SCV000365117	uncertain significance	Generalized epilepsy-paroxysmal dyskinesia syndrome	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000407683	SCV001092502	likely benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001559680	SCV001781963	likely benign	not provided	2020-09-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001559680	SCV002062923	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	KCNMA1: BP4, BP7