Submissions for variant NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)

gnomAD frequency: 0.11318  dbSNP: rs17343819

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116827	SCV000342974	benign	not specified	2016-07-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407261	SCV000474747	benign	Familial temporal lobe epilepsy 5	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000711315	SCV000841656	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV001515143	SCV001723153	benign	Febrile seizures, familial, 11	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116827	SCV000150901	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.