ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)

dbSNP: rs2135927504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389052 SCV001590257 pathogenic Ataxia-telangiectasia syndrome 2020-03-08 criteria provided, single submitter clinical testing 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 has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1783Thrfs*9) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321836 SCV004027240 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469751 SCV004212142 pathogenic Familial cancer of breast 2022-12-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003469751 SCV004933186 pathogenic Familial cancer of breast 2024-01-25 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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