ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5636A>G (p.Gln1879Arg) (rs786203086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166234 SCV000217014 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000236341 SCV000293208 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing This variant is denoted ATM c.5636A>G at the cDNA level, p.Gln1879Arg (Q1879R) at the protein level, and results in the change of a Glutamine to an Arginine (CAA>CGA). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. ATM Gln1879Arg 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 Glutamine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. ATM Gln1879Arg 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 Gln1879Arg is pathogenic or benign.

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