ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1742_1743insAT (p.Gln582fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000633 SCV005625075 likely pathogenic not provided 2024-10-31 criteria provided, single submitter clinical testing The MRE11 c.1742_1743insAT (p.Gln582Cysfs*41) variant alters the translational reading frame of the MRE11 mRNA and is predicted to cause the premature termination of MRE11 protein synthesis. This variant has not been reported in individuals with MRE11-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006646 SCV005631426 likely pathogenic Ataxia-telangiectasia-like disorder 1 2024-03-07 criteria provided, single submitter clinical testing

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