ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.929G>A (p.Arg310Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004765422 SCV005375251 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-10-13 criteria provided, single submitter clinical testing This variant (GRCh38; NM_014009.4:c.929G>A:p.Arg310Lys) results in a missense mutation with the conversion of Arginine (Basic amino acid) to Lysine (Basic amino acid) in the FOXP3 protein. Not observed at significant frequency in large population cohorts (gnomAD). This variant has a strong Conservation score. Multiple lines of computational evidence support a deleterious effect on the gene or gene product for this variant. A literature search was performed for the gene and associated variants. Based on this search no publications were found. Based on conflicting evidence or insufficient data to determine whether the variant is benign or pathogenic, the clinical significance of this alteration remains unclear. In summary, this variant meets our criteria for classification as of Unknown Clinical Significance based on the evidence outlined.

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