ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7200A>C (p.Arg2400Ser) (rs1060501534)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479040 SCV000566025 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is denoted ATM c.7200A>C at the cDNA level, p.Arg2400Ser (R2400S) at the protein level, and results in the change of an Arginine to a Serine (AGA>AGC). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. ATM Arg2400Ser was not observed in large population cohorts (Lek 2016). This variant is located in the FAT domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Arg2400Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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