ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) (rs376196220)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165683 SCV000216421 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-26 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000203884 SCV000260461 likely benign Ataxia-telangiectasia syndrome 2019-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000480887 SCV000570634 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is denoted ATM c.1261T>C at the cDNA level, p.Ser421Pro (S421P) at the protein level, and results in the change of a Serine to a Proline (TCA>CCA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. ATM Ser421Pro was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. 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 Ser421Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000165683 SCV001342223 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing

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