ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4281+22_4281+29del

gnomAD frequency: 0.00001  dbSNP: rs878855172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231592 SCV000291162 uncertain significance Fanconi anemia 2023-06-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 241739). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu1435Hisfs*2) in the FANCD2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the FANCD2 protein.
Fulgent Genetics, Fulgent Genetics RCV002479932 SCV002776225 uncertain significance Fanconi anemia complementation group D2 2022-01-10 criteria provided, single submitter clinical testing

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