Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043562 | SCV001207313 | pathogenic | Fanconi anemia | 2020-04-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1149Phefs*6) in the FANCM gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FANCM-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). |