Submissions for variant NM_001184.4(ATR):c.483A>G (p.Arg161=)

gnomAD frequency: 0.00021  dbSNP: rs182268224

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145316	SCV000192393	likely benign	not specified	2016-01-12	criteria provided, single submitter	clinical testing
Invitae	RCV001513159	SCV001720708	benign	not provided	2023-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001513159	SCV001994533	uncertain significance	not provided	2019-08-29	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen	RCV001513159	SCV002062510	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ATR: BP4, BS2
Ambry Genetics	RCV002336289	SCV002638054	likely benign	Inborn genetic diseases	2022-02-13	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315929	SCV004015634	likely benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing