ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)

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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 RCV003031096 SCV003314276 pathogenic Ataxia-telangiectasia syndrome 2022-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1296Ilefs*52) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 26896183). This variant is also known as c.3886delCCTT. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475471 SCV004212274 likely pathogenic Familial cancer of breast 2022-04-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003475471 SCV004933796 pathogenic Familial cancer of breast 2024-01-23 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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