ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) (rs876659872)

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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 RCV000214803 SCV000276787 pathogenic Hereditary cancer-predisposing syndrome 2015-06-24 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)
Integrated Genetics/Laboratory Corporation of America RCV000538433 SCV000694376 pathogenic Ataxia-telangiectasia syndrome 2017-04-21 criteria provided, single submitter clinical testing Variant summary: The ATM c.8287C>T (p.Arg2763X) variant results in a premature termination codon, predicted to cause a truncated or absent ATM protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations nearby or downstream of this position have been classified as pathogenic by our laboratory (e.g., c. 8266A>T [p.Lys2756X] and c.8977C>T [p.Arg2993X]). One in silico tool predicts a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121368 control chromosomes), but has been identified in several patients diagnosed with ataxia telangiectasia as a compound heterozygote, including cosegregating within a family (Porcedda_2008; Liu_2016). In addition, a clinical diagnostic laboratory has classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Invitae RCV000538433 SCV000622814 pathogenic Ataxia-telangiectasia syndrome 2018-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2763*) 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 as compound heterozygous in individuals affected with ataxia-telangiectasia (PMID: 17910737, 26628246). ClinVar contains an entry for this variant (Variation ID: 232612). 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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