ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.480G>A (p.Met160Ile)

gnomAD frequency: 0.00031  dbSNP: rs200603300
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465739 SCV000547742 benign Fanconi anemia 2025-01-22 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237725 SCV002010166 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120959 SCV002065344 uncertain significance not specified 2021-04-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003237725 SCV004218620 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing The FANCA c.480G>A (p.Met160Ile) variant has not been reported in individuals affected with a FANCA related disease in the published literature. However, this variant has been reported as a somatic variant in an individual with metastatic breast cancer (PMID: 33314633 (2021)) and identified in a reportedly healthy individual (PMID: 24728327 (2014)). The frequency of this variant in the general population, 0.00065 (33/50818 chromosomes, http://gnomad.broadinstitute.org), is uninformative in 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004786379 SCV005402116 uncertain significance Fanconi anemia complementation group A 2024-03-29 criteria provided, single submitter clinical testing The FANCA c.480G>A (p.Met160Ile) missense change has a maximum subpopulation frequency of 0.04% 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. 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.
ITMI RCV000120959 SCV000085127 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000465739 SCV002090763 uncertain significance Fanconi anemia 2020-02-14 no assertion criteria provided clinical testing

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