ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) (rs864622479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000204978 SCV000678036 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204978 SCV000260790 pathogenic Ataxia-telangiectasia syndrome 2017-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1530 (p.Glu1530*). It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic. This particular variant has been reported in an individual affected with ataxia-telangiectasia (PMID: 16189143). For these reasons, this variant has been classified as Pathogenic.

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