ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.146C>T (p.Ser49Phe) (rs1800054)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485863 SCV000567404 uncertain significance not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is denoted ATM c.146C>T at the cDNA level, p.Ser49Phe (S49F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCC>TTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ser49Phe 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 a deleterious effect. Based on currently available evidence, it is unclear whether ATM Ser49Phe is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000574147 SCV000665460 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000574147 SCV000687307 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-29 criteria provided, single submitter clinical testing
Invitae RCV000122819 SCV000166076 uncertain significance Ataxia-telangiectasia syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines.

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