Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001046665 | SCV001210578 | likely pathogenic | Cernunnos-XLF deficiency | 2019-01-20 | criteria provided, single submitter | clinical testing | 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. 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). This variant has not been reported in the literature in individuals with NHEJ1-related conditions. This variant is present in population databases (rs753495484, ExAC 0.006%). 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. |