ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6327G>A (p.Trp2109Ter) (rs867760244)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520110 SCV000618389 pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing This variant is denoted ATM c.6327G>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>TGA), 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, the adjacentvariant ATM c.6326G>A, which also results in a premature stop codon at this residue (Trp2109Ter), has been reportedin the compound heterozygous state in an individual with ataxia-telangiectasia (Cavalieri 2013). We consider thisvariant to be pathogenic

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