Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV001781086 | SCV002017714 | likely pathogenic | Fanconi anemia complementation group D2 | 2019-04-29 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001885181 | SCV002238993 | pathogenic | Fanconi anemia | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1273*) 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 (rs745930696, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 31586946). ClinVar contains an entry for this variant (Variation ID: 1324381). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001885181 | SCV003923233 | likely pathogenic | Fanconi anemia | 2023-03-14 | criteria provided, single submitter | clinical testing | Variant summary: FANCD2 c.3817C>T (p.Arg1273X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 251384 control chromosomes (gnomAD). c.3817C>T has been reported in the literature in individuals affected with Fanconi Anemia (e.g. Bogliolo_2020, George_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Ce |
RCV003434317 | SCV004146911 | likely pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | FANCD2: PVS1 |
| Baylor Genetics | RCV001781086 | SCV004196729 | pathogenic | Fanconi anemia complementation group D2 | 2023-09-24 | criteria provided, single submitter | clinical testing |