ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) (rs1057516981)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582272 SCV000687485 pathogenic Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing
Counsyl RCV000412416 SCV000486541 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV000412416 SCV000942311 pathogenic Ataxia-telangiectasia syndrome 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1181*) 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 observed in an individual affected with ataxia-telangiectasia (PMID:18321536). ClinVar contains an entry for this variant (Variation ID: 371071). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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