Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetic Services Laboratory, |
RCV001817936 | SCV002067436 | pathogenic | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | The sequence change is a 2 base pair deletion in exon 32, c.3146_3147del. This frameshift deletion is predicted to result in a premature stop codon at amino acid position 1049, p.Phe1049*. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated FANCA protein with potentially abnormal function. The p.Phe1049* change has not been described in population databases (gnomAD, ExAC). While this deletion has not previously been described in the literature, other frameshift deletions in the FANCA gene have been described in several patients with FANCA-related disorders (PMID: 29098742). These collective evidences indicate that this sequence change is pathogenic. |
| Invitae | RCV001869794 | SCV002233818 | pathogenic | Fanconi anemia | 2022-01-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1049*) 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). |
| Baylor Genetics | RCV003470932 | SCV004196003 | likely pathogenic | Fanconi anemia complementation group A | 2023-10-16 | criteria provided, single submitter | clinical testing |