ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7376G>A (p.Arg2459His) (rs1064796589)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571661 SCV000660734 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Color RCV000571661 SCV000682411 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000481778 SCV000573434 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing This variant is denoted ATM c.7376G>A at the cDNA level, p.Arg2459His (R2459H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Arg2459His was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Arginine and Histidine share similar properties, this is considered a conservative amino acid substitution. ATM Arg2459His occurs at a position that is conserved across species and is located in the within FAT domain (Stracker 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether ATM Arg2459His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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