ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3231dup (p.Leu1078fs)

dbSNP: rs1057517097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409693 SCV000486742 likely pathogenic Ataxia-telangiectasia syndrome 2016-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409693 SCV001226493 pathogenic Ataxia-telangiectasia syndrome 2022-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1078Serfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 371217). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004022144 SCV004933360 pathogenic Familial cancer of breast 2024-01-19 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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