Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001783252 | SCV002801919 | likely pathogenic | Fanconi anemia complementation group D2 | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003523107 | SCV004311697 | pathogenic | Fanconi anemia | 2023-01-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1322877). This variant is also known as c.227delA. This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 31586946). This variant is present in population databases (rs770835633, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Lys77Argfs*7) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). For these reasons, this variant has been classified as Pathogenic. |