ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.530-1G>A

dbSNP: rs1481152382
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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 RCV001979683 SCV002252183 likely pathogenic Cernunnos-XLF deficiency 2021-04-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NHEJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the NHEJ1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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