ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8270T>G (p.Val2757Gly) (rs201216427)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484049 SCV000564667 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing This variant is denoted ATM c.8270T>G at the cDNA level, p.Val2757Gly (V2757G) at the protein level, and results in the change of a Valine to a Glycine (GTG>GGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Val2757Gly was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Valine and Glycine share similar properties, this is considered a conservative amino acid substitution. ATM Val2757Gly occurs at a position that is conserved across species and is located in the Kinase domain (Stracker 2013). Protein-based in silico analyses predict that this variant is probably damaging to protein structure and function. Multiple splicing models predict that this variant may partially disrupt the natural splice acceptor site for intron 56. Based on currently available information, it is unclear whether ATM Val2757Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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