ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6843del (p.Gln2280_Tyr2281insTer) (rs1565520291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689889 SCV000817559 pathogenic Ataxia-telangiectasia syndrome 2018-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2281*) 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 not been reported in the literature in individuals with ATM-related disease. A different variant, c.6843C>G, giving rise to the same protein effect observed here (p.Tyr2281*) has been observed in an individual affected with breast cancer (Invitae). 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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