ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8731dup (p.Thr2911fs)

dbSNP: rs2137291352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911585 SCV002175439 pathogenic Ataxia-telangiectasia syndrome 2023-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1400987). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr2911Asnfs*14) 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).
Baylor Genetics RCV003471022 SCV004212023 likely pathogenic Familial cancer of breast 2023-04-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003471022 SCV004930731 pathogenic Familial cancer of breast 2024-02-05 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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