ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.422dup (p.Leu141fs)

dbSNP: rs1565233979
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239153 SCV002509493 pathogenic Ataxia-telangiectasia-like disorder 2022-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu141Phefs*25) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1681628). For these reasons, this variant has been classified as Pathogenic.

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