ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468123 SCV004196707 likely pathogenic Fanconi anemia complementation group D2 2023-10-31 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.
PreventionGenetics, part of Exact Sciences 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.

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