ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5971G>T (p.Glu1991Ter) (rs786203404)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554055 SCV000622629 pathogenic Ataxia-telangiectasia syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1991*) 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 been reported as in combination with another pathogenic ATM variant in an individual affected with ataxia-telangiectasia (AT) (PMID: 10330348) and as heterozygous in an individual with breast cancer (PMID: 25330149). Loss-of-function variants in ATM are known to be pathogenic (PMID:  25614872, 23807571). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000567120 SCV000665585 pathogenic Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000567120 SCV000912137 pathogenic Hereditary cancer-predisposing syndrome 2017-05-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991562 SCV001143117 pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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