ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) (rs778269655)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579481 SCV000682476 pathogenic Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
Counsyl RCV000169516 SCV000220986 likely pathogenic Ataxia-telangiectasia syndrome 2014-12-23 criteria provided, single submitter literature only
Invitae RCV000169516 SCV000260922 pathogenic Ataxia-telangiectasia syndrome 2018-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2769*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778269655, ExAC 0.01%). This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 8845835). ClinVar contains an entry for this variant (Variation ID: 189104). 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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