ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6326G>A (p.Trp2109Ter) (rs587782114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130633 SCV000185509 pathogenic Hereditary cancer-predisposing syndrome 2017-07-26 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000521744 SCV000617372 pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing This variant is denoted ATM c.6326G>A at the cDNA level and p.Trp2109Ter (W2109X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon(TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in an individual with Ataxia-Telangiectasia and found to be intrans with an ATM variant that reportedly impacts splicing (Cavalieri 2008, Porcedda 2008, Cavalieri 2013). Based oncurrently available evidence, we consider ATM Trp2109Ter to be a pathogenic variant

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