ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2498G>C (p.Gly833Ala) (rs552010421)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236450 SCV000293180 uncertain significance not provided 2015-09-26 criteria provided, single submitter clinical testing This variant is denoted ATM c.2498G>C at the cDNA level, p.Gly833Ala (G833A) at the protein level, and results in the change of a Glycine to an Alanine (GGA>GCA). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. ATM Gly833Ala was not observed at a significant allele frequency in 1000 Genomes. Since Glycine and Alanine share similar properties, this is considered a conservative amino acid substitution. ATM Gly833Ala occurs at a position that is not conserved and is not located in a known functional domain (Tavtigian 2009). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether ATM Gly833Ala is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000773240 SCV000906854 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 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.