ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7332G>C (p.Glu2444Asp) (rs876658886)

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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 RCV000217221 SCV000274704 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-23 criteria provided, single submitter clinical testing
Color RCV000217221 SCV000904775 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000479125 SCV000567811 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing This variant is denoted ATM c.7332G>C at the cDNA level, p.Glu2444Asp (E2444D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAG>GAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Glu2444Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution. ATM Glu2444Asp occurs at a position that is conserved across species and is located in the FAT domain (Stracker 2013, UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether ATM Glu2444Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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