Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001194956 | SCV002809890 | pathogenic | Fanconi anemia complementation group G | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003635945 | SCV004549239 | pathogenic | Fanconi anemia | 2022-09-29 | 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: 929690). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 12552564). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro337Thrfs*41) 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). |
Leiden Open Variation Database | RCV001194956 | SCV001364825 | pathogenic | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |