ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.627+22_627+33dup

dbSNP: rs1372067743
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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 RCV001937195 SCV002137015 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2021-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the NCF4 gene. It does not directly change the encoded amino acid sequence of the NCF4 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with NCF4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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