ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283930 SCV002573147 pathogenic Cernunnos-XLF deficiency 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 NHEJ1-related disorder (PMID: 31130284). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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