ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.824del (p.Ser274_Leu275insTer) (rs864622389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205636 SCV000260428 pathogenic Ataxia-telangiectasia syndrome 2018-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu275*) 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 as homozygous, and in combination with another ATM variant, in families affected with ataxia-telangiectasia (PMID: 9463314, 9887333). It has also been observed in an individual with breast cancer (PMID: 27599564). It is also known as 822delT in the literature. ClinVar contains an entry for this variant (Variation ID: 220121). 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 RCV000221322 SCV000273809 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 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)
Division of Human Genetics,Children's Hospital of Philadelphia RCV000205636 SCV000536863 pathogenic Ataxia-telangiectasia syndrome 2016-02-21 no assertion criteria provided research

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