ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)

dbSNP: rs121434222
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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 RCV000524615 SCV000622471 pathogenic Ataxia-telangiectasia syndrome 2022-10-05 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: 3041). 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.Gln1361*) 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. RCV004018543 SCV004931884 pathogenic Familial cancer of breast 2024-01-23 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.
OMIM RCV000003182 SCV000023340 pathogenic Mantle cell lymphoma 2000-03-14 no assertion criteria provided literature only

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