Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543183 | SCV000626180 | pathogenic | Fanconi anemia | 2020-06-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456108). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1029*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. |