Submissions for variant NM_001367721.1(CASK):c.1077G>A (p.Ala359=)

gnomAD frequency: 0.00084  dbSNP: rs145641295

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174317	SCV000225598	benign	not specified	2015-04-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174317	SCV000246865	likely benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313031	SCV000849061	benign	Inborn genetic diseases	2017-02-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001079336	SCV001005987	benign	Intellectual disability, CASK-related, X-linked	2024-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000865081	SCV001156008	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000865081	SCV001941550	benign	not provided	2019-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965254	SCV004781604	likely benign	CASK-related condition	2019-09-11	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).