ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7608del (p.His2538fs)

dbSNP: rs1565532554
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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 RCV000689167 SCV000816807 pathogenic Ataxia-telangiectasia syndrome 2018-09-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATM-related disease. For these reasons, this variant has been classified as Pathogenic. 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 sequence change creates a premature translational stop signal (p.His2538Metfs*7) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV004026316 SCV004933800 pathogenic Familial cancer of breast 2024-01-31 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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