ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6850del (p.Val2284fs) (rs876659569)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213820 SCV000276174 pathogenic Hereditary cancer-predisposing syndrome 2018-02-26 criteria provided, single submitter clinical testing The c.6850delG pathogenic mutation, located in coding exon 46 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 6850, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV000628177 SCV000749070 pathogenic Ataxia-telangiectasia syndrome 2017-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2284Leufs*26) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 232123). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000628177 SCV000795691 likely pathogenic Ataxia-telangiectasia syndrome 2017-11-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000213820 SCV000909471 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 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.