ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer)

dbSNP: rs1472146831
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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 RCV000814529 SCV000954942 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2018-11-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This sequence change creates a premature translational stop signal (p.Glu441*) in the NCF2 gene. It is expected to result in an absent or disrupted protein product.

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