ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6910del (p.Glu2304fs) (rs1555119940)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544734 SCV000622697 pathogenic Ataxia-telangiectasia syndrome 2017-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2304Serfs*6) in 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 variant has been reported in combination with other ATM variants in individuals affected with ataxia-telangiectasia, including two siblings with a variant  form of the disease (PMID: 19535770, 22213089). For these reasons, this variant has been classified as Pathogenic.

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