ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.904del (p.His302fs)

dbSNP: rs777621636
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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 RCV000702612 SCV000831472 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His302Thrfs*43) 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). This variant is present in population databases (rs777621636, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NCF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 579352). For these reasons, this variant has been classified as Pathogenic.

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