ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.820_821del (p.Leu274fs) (rs1565228898)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201787 SCV001372878 pathogenic Ataxia-telangiectasia-like disorder 2019-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu274Phefs*16) in the MRE11 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 with clinical features of ataxia-telangiectasia-like disorder (PMID: 28849312). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000995807 SCV001150166 likely pathogenic Ataxia-telangiectasia-like disorder 1 2019-06-13 no assertion criteria provided clinical testing

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