ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5146T>C (p.Ser1716Pro)

gnomAD frequency: 0.00002  dbSNP: rs1314294343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764048 SCV002000332 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001764048 SCV002774582 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing The FANCM c.5146T>C (p.Ser1716Pro) variant has been identified in the published literature in reportedly healthy individuals (PMID: 36707629 (2023), 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/FANCM)). The frequency of this variant in the general population, 0.00012 (3/24950 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.

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