ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003054322 SCV003339415 pathogenic Cernunnos-XLF deficiency 2022-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val27Glnfs*22) in the NHEJ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NHEJ1 are known to be pathogenic (PMID: 16439204, 20597108). This variant is present in population databases (rs777740338, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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