Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468123 | SCV004196707 | likely pathogenic | Fanconi anemia complementation group D2 | 2024-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003779026 | SCV004642136 | pathogenic | Fanconi anemia | 2023-09-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg926*) 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 (rs748180733, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17436244). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003901088 | SCV004715371 | likely pathogenic | FANCD2-related disorder | 2024-01-08 | criteria provided, single submitter | clinical testing | The FANCD2 c.2776C>T variant is predicted to result in premature protein termination (p.Arg926*). This variant has been reported in individuals with bladder urothelial carcinoma and bile duct cancer (Huang et al. 2018. PubMed ID: 29625052. Table S2B; Bertelsen et al. 2019. PubMed ID: 31263571. Table S4). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Nonsense variants in FANCD2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |