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 2019-10-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000552032 SCV000622855 pathogenic Ataxia-telangiectasia syndrome 2019-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2960*) 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 prostate cancer (PMID: 10817650, 28825054). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000494678 SCV000687861 pathogenic Hereditary cancer-predisposing syndrome 2020-02-26 criteria provided, single submitter clinical testing

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