Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382198 | SCV001580854 | pathogenic | Fanconi anemia | 2023-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1267Thrfs*15) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs775517107, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070165). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001531562 | SCV001746756 | likely pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001382198 | SCV002529520 | likely pathogenic | Fanconi anemia | 2021-12-15 | criteria provided, single submitter | curation | |
Gene |
RCV001531562 | SCV002575628 | likely pathogenic | not provided | 2022-03-25 | criteria provided, single submitter | clinical testing | Identified as a heterozygous germline variant in a male with colorectal cancer, who was also heterozygous for a variant in FAM111B in the published literature (Bertelsen et al., 2019); Frameshift 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31263571) |
Baylor Genetics | RCV003462982 | SCV004196718 | likely pathogenic | Fanconi anemia complementation group D2 | 2023-10-11 | criteria provided, single submitter | clinical testing |