ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) (rs587781363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129156 SCV000183880 pathogenic Hereditary cancer-predisposing syndrome 2017-05-10 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)
GeneDx RCV000523615 SCV000617376 pathogenic not provided 2018-03-21 criteria provided, single submitter clinical testing This variant is denoted ATM c.8473C>T at the cDNA level and p.Gln2825Ter (Q2825X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported in an individual with early-onset breast cancer and has been observed in thecompound heterozygous state in at least two patients with ataxia-telangiectasia (FitzGerald 1997, Chun 2002, Cavalieri2006). We consider this variant to be pathogenic
Invitae RCV000549950 SCV000622823 pathogenic Ataxia-telangiectasia syndrome 2018-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2825*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with ataxia-telangiectasia and breast cancer (PMID: 17910737, 16941484, 19691550, 9054948). ClinVar contains an entry for this variant (Variation ID: 140907). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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