ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4236del (p.Asp1413fs)

dbSNP: rs1565455297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872611 SCV002142709 pathogenic Ataxia-telangiectasia syndrome 2021-08-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change creates a premature translational stop signal (p.Asp1413Ilefs*38) 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).
Myriad Genetics, Inc. RCV003452043 SCV004189285 pathogenic Familial cancer of breast 2023-08-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003452043 SCV004210129 pathogenic Familial cancer of breast 2023-07-23 criteria provided, single submitter clinical testing

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