ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.829G>T (p.Glu277Ter) (rs876660933)

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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 RCV000223320 SCV000278750 pathogenic Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000223320 SCV000682475 pathogenic Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000669686 SCV000794463 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000235851 SCV000293322 likely pathogenic not provided 2015-11-03 criteria provided, single submitter clinical testing This variant is denoted ATM c.829G>T at the cDNA level and p.Glu277Ter (E277X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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