Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002550945 | SCV003525856 | pathogenic | not provided | 2023-05-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1064678). This premature translational stop signal has been observed in individual(s) with clinical features of NKFB1 deficiency (PMID: 27365489). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg157*) in the NFKB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NFKB1 are known to be pathogenic (PMID: 26279205, 29477724). |
OMIM | RCV001374705 | SCV001571629 | pathogenic | Immunodeficiency, common variable, 12 | 2021-04-20 | no assertion criteria provided | literature only |