ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1112dup (p.Gly372fs) (rs1591681273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205827 SCV001377104 pathogenic Ataxia-telangiectasia-like disorder 2020-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly372Argfs*3) 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 not been reported in the literature in individuals with MRE11-related conditions. 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 RCV000995583 SCV001149842 likely pathogenic Ataxia-telangiectasia-like disorder 1 2019-06-07 no assertion criteria provided clinical testing

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