ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)

gnomAD frequency: 0.00014  dbSNP: rs188695241
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792471 SCV000931772 benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816841 SCV002071325 uncertain significance not specified 2019-10-08 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001276515 SCV002584551 uncertain significance Fanconi anemia complementation group A 2022-08-15 criteria provided, single submitter clinical testing The FANCA c.2949T>G (p.Ile983Met) missense change has a maximum subpopulation frequency of 0.048% in gnomAD v2.1.1 ( https://gnomad.broadinstitute.org/ ). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. This variant has been reported in individuals with ovarian cancer and soft tissue sarcoma (PMID: 30541756, 32546565). To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Revvity Omics, Revvity RCV001276515 SCV003832353 uncertain significance Fanconi anemia complementation group A 2019-09-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478489 SCV004221988 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in individuals with FANCA-related conditions in the published literature. The frequency of this variant in the general population, 0.00048 (12/24964 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001276515 SCV001462894 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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