ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) (rs202028401)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159735 SCV000209749 uncertain significance not provided 2018-12-10 criteria provided, single submitter clinical testing This variant is denoted ATM c.5630T>C at the cDNA level, p.Phe1877Ser (F1877S) at the protein level, and results in the change of a Phenylalanine to a Serine (TTC>TCC). This variant was observed once in a series of 86 non-Hodgkin lymphoma patients (Sipahimalani 2007). ATM Phe1877Ser 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 Phe1877Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000472045 SCV000547090 likely benign Ataxia-telangiectasia syndrome 2019-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567744 SCV000667915 likely benign Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Color RCV000567744 SCV000913965 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-09 criteria provided, single submitter clinical testing

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