ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2426C>T (p.Ser809Leu) (rs730881348)

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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 RCV000221491 SCV000276451 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000221491 SCV000905169 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000159694 SCV000209702 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing This variant is denoted ATM c.2426C>T at the cDNA level, p.Ser809Leu (S809L) at the protein level, and results in the change of a Serine to a Leucine (TCA>TTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ser809Leu was not observed 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 Ser809Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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