ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.728del (p.Glu243fs)

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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 RCV002664194 SCV003523933 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu243Glyfs*28) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 10498624). ClinVar contains an entry for this variant (Variation ID: 2202893). For these reasons, this variant has been classified as Pathogenic.

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