ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter)

dbSNP: rs2080101717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729980 SCV001976683 pathogenic X-linked intellectual disability, Cantagrel type 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3
3billion, Medical Genetics RCV001729980 SCV002573170 pathogenic X-linked intellectual disability, Cantagrel type 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with NEXMIF-related disorder (ClinVar ID: VCV001299508). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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