ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.589-2A>G

dbSNP: rs753495484
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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 RCV001046665 SCV001210578 likely pathogenic Cernunnos-XLF deficiency 2019-01-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the NHEJ1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs753495484, ExAC 0.006%). This variant has not been reported in the literature in individuals with NHEJ1-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NHEJ1 are known to be pathogenic (PMID: 16439204, 20597108). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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