ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.785T>A (p.Leu262Ter) (rs864622163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206320 SCV000259524 pathogenic Ataxia-telangiectasia syndrome 2018-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 262 (p.Leu262*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000206320 SCV000793316 likely pathogenic Ataxia-telangiectasia syndrome 2017-08-10 criteria provided, single submitter clinical testing

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