ClinVar Miner

Submissions for variant NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV004586511 SCV005077903 uncertain significance Iron-refractory iron deficiency anemia 2024-06-19 criteria provided, single submitter curation The heterozygous p.Leu302Gly variant in TOX was identified by our study in 1 individual with IRIDA and restless legs syndrome that is responsive to iron. While this gene is still lacking sufficient evidence to establish a gene-disease relationship, we believe this is a possible novel gene candidate for iron responsive disorders. Given the limited information about this gene-disease relationship, the significance of the p.Leu302Gly variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in TOX we encourage you to reach out to us.

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