ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8923del (p.Glu2975fs)

dbSNP: rs2137879945
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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 RCV001382099 SCV001580729 pathogenic Ataxia-telangiectasia syndrome 2020-02-24 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the ATM protein. Other variant(s) that disrupt this region (p.Arg2993*, p.Arg3047*) have been determined to be pathogenic (PMID: 12815592, 16238588, 20840352, 23774824, 8755918, 18560558, 26628246). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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 results in a premature translational stop signal in the ATM gene (p.Glu2975Lysfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acids of the ATM protein. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004037655 SCV004931471 pathogenic Familial cancer of breast 2024-02-06 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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