ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003494647 SCV004293978 pathogenic Cernunnos-XLF deficiency 2023-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg176*) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of NHEJ1-related severe combined immunodeficiency (PMID: 20597108, 31589898). For these reasons, this variant has been classified as Pathogenic.

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