ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.196C>T (p.Arg66Ter)

dbSNP: rs750782115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172222 SCV001335214 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558732 SCV003523364 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-07-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 916521). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 10598813, 30470980). This variant is present in population databases (rs750782115, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg66*) 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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