Submissions for variant NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)

gnomAD frequency: 0.34166  dbSNP: rs2227931

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145318	SCV000192395	likely benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271882	SCV000441420	benign	Seckel syndrome 1	2018-01-13	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	RCV000589245	SCV000697786	benign	not provided	2016-04-27	criteria provided, single submitter	clinical testing	Variant summary: The c.5208C>T in ATR gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing. The variant is present in the control population dataset of ExAC at frequency of 36%. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.00006% in this gene, suggesting that it is a benign common polymorphism. The variant of interest has been reported as Benign/Polymorphism by a clinical laboratory and a published report (Durocher et al., 2006). Taken together, based on the prevalence in general population the variant was classified as Benign.
Invitae	RCV000589245	SCV001729234	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000589245	SCV001902916	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000271882	SCV003801477	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126530	SCV003801478	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	RCV003126530	SCV004015479	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing