ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8879G>A (p.Trp2960Ter) (rs1131691149)

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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 RCV000494678 SCV000581434 pathogenic Hereditary cancer-predisposing syndrome 2016-10-21 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)
Color RCV000494678 SCV000687861 pathogenic Hereditary cancer-predisposing syndrome 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV000552032 SCV000622855 pathogenic Ataxia-telangiectasia syndrome 2017-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2960 (p.Trp2960*) of the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with ataxia telangiectasia (PMID: 10817650). For these reasons, this variant has been classified as Pathogenic.

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