ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.785T>A (p.Leu262Ter)

dbSNP: rs864622163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206320 SCV000259524 pathogenic Ataxia-telangiectasia syndrome 2022-10-20 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: 219578). 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.Leu262*) 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).
Counsyl RCV000206320 SCV000793316 likely pathogenic Ataxia-telangiectasia syndrome 2017-08-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000206320 SCV003818707 likely pathogenic Ataxia-telangiectasia syndrome 2021-12-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462368 SCV004216221 pathogenic Familial cancer of breast 2023-12-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003462368 SCV004933694 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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