ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter) (rs1555137973)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics,Institute of Oncology RCV000755036 SCV000882856 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
Invitae RCV000796609 SCV000936129 pathogenic Ataxia-telangiectasia syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2809*) 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. 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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