Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801557 | SCV000941337 | pathogenic | Fanconi anemia | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp386*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 647127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003461133 | SCV004196610 | likely pathogenic | Fanconi anemia complementation group A | 2022-10-23 | criteria provided, single submitter | clinical testing |