Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002226565 | SCV002505524 | pathogenic | Fanconi anemia complementation group G | 2022-04-20 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP |
Fulgent Genetics, |
RCV002226565 | SCV002787715 | likely pathogenic | Fanconi anemia complementation group G | 2021-09-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002226565 | SCV004199184 | likely pathogenic | Fanconi anemia complementation group G | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003523119 | SCV004265348 | pathogenic | Fanconi anemia | 2023-09-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1679122). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg39*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). |