Submissions for variant NM_020361.5(CPA6):c.809C>T (p.Ala270Val)

gnomAD frequency: 0.00300  dbSNP: rs114402678

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180353	SCV000232766	uncertain significance	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Invitae	RCV000023776	SCV000651986	benign	Febrile seizures, familial, 11	2023-12-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000023776	SCV001137642	uncertain significance	Febrile seizures, familial, 11	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163570	SCV001325622	likely benign	Familial temporal lobe epilepsy 5	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003924858	SCV004742583	likely benign	CPA6-related disorder	2020-07-23	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM	RCV000023776	SCV000045067	pathogenic	Febrile seizures, familial, 11	2012-01-01	no assertion criteria provided	literature only
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251959	SCV001427705	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing