ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8504dup (p.Cys2835fs)

dbSNP: rs2137031805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951427 SCV002239674 pathogenic Ataxia-telangiectasia syndrome 2021-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2835Trpfs*13) 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 (PMID: 23807571, 25614872). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004044398 SCV004933703 pathogenic Familial cancer of breast 2024-02-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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