ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)

dbSNP: rs2081303007
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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 RCV001201614 SCV001372692 pathogenic Ataxia-telangiectasia syndrome 2022-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val835*) 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: 933409). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462673 SCV004207120 likely pathogenic Familial cancer of breast 2023-09-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003462673 SCV004933799 pathogenic Familial cancer of breast 2024-01-18 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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