Submissions for variant NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)

gnomAD frequency: 0.00049  dbSNP: rs141975755

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128079	SCV000171670	benign	not specified	2013-03-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000725933	SCV000340630	uncertain significance	not provided	2018-09-04	criteria provided, single submitter	clinical testing
Invitae	RCV001085403	SCV000560575	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312935	SCV000847414	likely benign	Inborn genetic diseases	2016-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000725933	SCV001500445	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SLC25A22: BP4, BP7