ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)

gnomAD frequency: 0.00008  dbSNP: rs199601218
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685297 SCV000812775 likely benign Fanconi anemia 2023-12-30 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237986 SCV002010178 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816695 SCV002071991 uncertain significance not specified 2021-11-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000685297 SCV002535021 uncertain significance Fanconi anemia 2021-07-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001274526 SCV002782069 uncertain significance Fanconi anemia complementation group A 2022-04-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003237986 SCV004218574 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing In the published literature, the variant has been reported in an individual with neuroblastoma (PMID: 27997549 (2016)) as well as in an unaffected individual (PMID: 29641532 (2018)). The frequency of this variant in the general population, 0.00024 (12/50778 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. RCV001274526 SCV001458755 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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