ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4040T>A (p.Leu1347Ter) (rs1565452621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777360 SCV000913222 pathogenic Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000760571 SCV000890462 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.4040T>A at the cDNA level and p.Leu1347Ter (L1347X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is considered pathogenic.
Invitae RCV000801604 SCV000941387 pathogenic Ataxia-telangiectasia syndrome 2018-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1347*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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