Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002872717 | SCV003238045 | pathogenic | Fanconi anemia | 2023-10-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys314Serfs*12) 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). This variant is present in population databases (rs768083289, gnomAD 0.002%). 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: 2033891). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003395526 | SCV004118725 | likely pathogenic | FANCG-related disorder | 2022-08-22 | criteria provided, single submitter | clinical testing | The FANCG c.941delG variant is predicted to result in a frameshift and premature protein termination (p.Cys314Serfs*12). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-35076563-GC-G). Frameshift variants in FANCG are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
Baylor Genetics | RCV003465859 | SCV004199157 | likely pathogenic | Fanconi anemia complementation group G | 2023-05-02 | criteria provided, single submitter | clinical testing |