Submissions for variant NM_001184.4(ATR):c.1950G>A (p.Glu650=)

gnomAD frequency: 0.01739  dbSNP: rs28910270

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145294	SCV000192371	benign	not specified	2013-07-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398572	SCV000441448	benign	Seckel syndrome 1	2018-01-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588919	SCV000697780	benign	not provided	2016-04-27	criteria provided, single submitter	clinical testing	Variant summary: The ATR c.1950G>A variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts the variant is a polymorphism, and 3/5 Alamut algorithms predict no significant change in splicing. Additionally, the variant has been reported as a polymorphism in the literature (PMID: 26695994). This variant was found in 2283/120952 control chromosomes (48 homozygotes) at a frequency of 0.0188753, which is about 30200 times the maximal expected frequency of a pathogenic ATR allele (0.0000006), suggesting this variant is benign. Furthermore, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000588919	SCV001470806	benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Invitae	RCV000588919	SCV001725421	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000588919	SCV001836931	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000398572	SCV003801813	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126514	SCV003801814	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003126514	SCV004015512	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing