ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) (rs532480170)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235108 SCV000149131 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing This variant is denoted ATM c.6100C>T at the cDNA level and p.Arg2034Ter (R2034X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in multiple individuals with breast cancer (Teraoka 2001, Ang?le 2003, Shirts 2016, Tavera-Tapia 2017). In addition, this variant has been identified in several patients with ataxia telangiectasia, including one family with multiple siblings affected in the confirmed homozygous state (Telatar 1996, Buzin 2003, An 2016). Based on currently available evidence, we consider this variant to be pathogenic.
Invitae RCV000122867 SCV000166125 pathogenic Ataxia-telangiectasia syndrome 2018-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2034*) 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 reported in the literature in individuals affected with ataxia-telangiectasia, breast cancer and multiple cancer types (PMID: 8659541, 21833744, 11505391, 26845104, 26681312). ClinVar contains an entry for this variant (Variation ID: 127417). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000115222 SCV000214025 pathogenic Hereditary cancer-predisposing syndrome 2018-03-06 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
University of Washington Department of Laboratory Medicine,University of Washington RCV000115222 SCV000266019 likely pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Color RCV000115222 SCV000292138 pathogenic Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000122867 SCV000807216 pathogenic Ataxia-telangiectasia syndrome 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a missense mutation in a 10-year-old male with global delays, myopathy, epilepsy, generalize muscle weakness, and abnormal brain MRI.

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