Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001863078 | SCV002206753 | pathogenic | Fanconi anemia | 2023-09-22 | 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: 929701). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 12552564). This variant is present in population databases (rs761519737, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala533Profs*26) 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). |
Baylor Genetics | RCV001194968 | SCV004199119 | pathogenic | Fanconi anemia complementation group G | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194968 | SCV001364842 | pathogenic | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |