ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1314A>C (p.Ile438=) (rs770573462)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566352 SCV000665576 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755831 SCV000883420 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing The c.1314A>C variant does not alter the amino acid sequence of the ATM protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site.It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the genome Aggregation Database (gnomAD) browser. The c.1314A>C variant has not been reported in association with disease in medical literature or in gene specific variation databases. Based on these observations, the c.1314A>C variant is likely to be benign.
Invitae RCV001086150 SCV001085318 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.