Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226674 | SCV003922664 | likely pathogenic | Chronic granulomatous disease | 2023-03-21 | criteria provided, single submitter | clinical testing | Variant summary: NCF2 c.500G>A (p.Trp167X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in affected individuals (HGMD). The variant was absent in 251480 control chromosomes (gnomAD). To our knowledge, no occurrence of c.500G>A in individuals affected with Chronic Granulomatous Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV003603153 | SCV004407878 | pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2023-09-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp167*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2501077). 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). |