ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) (rs749036865)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205849 SCV000260212 pathogenic Ataxia-telangiectasia syndrome 2019-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg457*) 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 particular variant has been reported in patients affected with ataxia-telangiectasia and breast cancer (PMID: 17910737, 25428789, 26098866). ClinVar contains an entry for this variant (Variation ID: 219999). Loss-of-function variants in ATM are known to be pathogenic (PMID: 25614872, 23807571). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000205849 SCV000486954 pathogenic Ataxia-telangiectasia syndrome 2016-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000493633 SCV000581476 pathogenic Hereditary cancer-predisposing syndrome 2018-12-21 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000493633 SCV000687305 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762813 SCV000893171 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing

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