ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.877A>T (p.Lys293Ter)

dbSNP: rs1057516442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411113 SCV000485684 likely pathogenic Ataxia-telangiectasia syndrome 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV000411113 SCV001585448 pathogenic Ataxia-telangiectasia syndrome 2023-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370378). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys293*) 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. RCV004022135 SCV004931676 pathogenic Familial cancer of breast 2024-01-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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