ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)

dbSNP: rs2081381578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054612 SCV001218957 pathogenic Ataxia-telangiectasia syndrome 2021-10-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr889*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATM-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Baylor Genetics RCV003462563 SCV004215528 likely pathogenic Familial cancer of breast 2023-05-18 criteria provided, single submitter clinical testing

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