Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468153 | SCV004199114 | likely pathogenic | Fanconi anemia complementation group G | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003523186 | SCV004368524 | pathogenic | Fanconi anemia | 2023-01-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Asn311Glufs*14) 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). |