Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070935 | SCV001236215 | pathogenic | Fanconi anemia | 2023-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 863867). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs374626826, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg627*) 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). |
Gene |
RCV001593251 | SCV001825445 | likely pathogenic | not provided | 2020-12-11 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge |
Preventiongenetics, |
RCV003396727 | SCV004110924 | likely pathogenic | FANCM-related condition | 2023-03-23 | criteria provided, single submitter | clinical testing | The FANCM c.1879C>T variant is predicted to result in premature protein termination (p.Arg627*). To our knowledge, this variant has not been reported in the literature in a patient with a FANCM related disorder. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-45636243-C-T) and is listed in ClinVar as likely pathogenic and pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/863867/). Nonsense variants in FANCM are expected to be pathogenic. This variant is interpreted as likely pathogenic. |