ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.652C>T (p.Gln218Ter) (rs1555066551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523860 SCV000620558 likely pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing This variant is denoted ATM c.652C>T at the cDNA level and p.Gln218Ter (Q218X) at the protein level.The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), andis predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. ATM Gln218Ter has been reported in at least one family with multiple cases of breast cancer (Pinto 2016) and isconsidered likely pathogenic.
Ambry Genetics RCV000575828 SCV000672668 pathogenic Hereditary cancer-predisposing syndrome 2018-01-19 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)

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