ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2692C>T (p.Gln898Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004808516 SCV005431441 pathogenic X-linked intellectual disability, Cantagrel type 2024-12-13 criteria provided, single submitter clinical testing This variant was detected in a female with ADHD, hyperkinetic movements, moderate to severe intellectual disability, developmental dysphasia, myoclonic epilepsy, behavioral abnormalities. The variant was found to be of a de novo origin. Rare de novo truncating variants affecting the NEXMIF gene are documented as a molecular cause of X-linked "intellectual developmental disorder-98" (XLID98; OMIM:300912; PMID:27568816;23615299;25900396;26576034). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PS2).

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