Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045406 | SCV001209255 | pathogenic | Fanconi anemia | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1327Valfs*16) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). This variant is present in population databases (rs757391108, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26822949). ClinVar contains an entry for this variant (Variation ID: 842905). For these reasons, this variant has been classified as Pathogenic. |
Institute for Clinical Genetics, |
RCV003238283 | SCV002011482 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing |