ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)

dbSNP: rs796065033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494542 SCV000582904 pathogenic not provided 2019-08-27 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a non-repeat region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 18625437, 20167518, 10598813, 10498624, 32040803)
Labcorp Genetics (formerly Invitae), Labcorp RCV000002333 SCV000956351 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-01-26 criteria provided, single submitter clinical testing This variant, c.55_63del, results in the deletion of 3 amino acid(s) of the NCF2 protein (p.Lys19_Asp21del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs796065033, gnomAD 0.003%). This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 10498624, 10598813, 18625437; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2245). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002333 SCV000022491 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1999-10-01 no assertion criteria provided literature only

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