ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)

dbSNP: rs1057516721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411456 SCV000486111 likely pathogenic Ataxia-telangiectasia syndrome 2016-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411456 SCV002232445 pathogenic Ataxia-telangiectasia syndrome 2021-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 370725). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu581Ilefs*7) 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).
Baylor Genetics RCV003470333 SCV004205779 likely pathogenic Familial cancer of breast 2023-10-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003470333 SCV004933718 pathogenic Familial cancer of breast 2024-01-16 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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