ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1026+1G>C

dbSNP: rs1558092897
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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 RCV000694265 SCV000822701 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2018-06-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the NCF2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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 NCF2 are known to be pathogenic (PMID: 10498624, 20167518). This variant has not been reported in the literature in individuals with NCF2-related disease. This variant is not present in population databases (ExAC no frequency).

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