ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter)

dbSNP: rs1349405769
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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 RCV001888511 SCV002146995 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-06-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1377437). This variant has not been reported in the literature in individuals affected with NCF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu388*) in the NCF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518).

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