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A targeted sequencing study of 86 unrelated Chinese Han patients with renal agenesis, unilateral identified rare conserved mutations in seven nephrogenesis-related genes, including a single heterozygous variant in RET (10.5% of cases) (PMID:28618409). All coding exons and adjacent intronic regions of 25 genes were screened by NGS and validated by Sanger sequencing; the RET variant was absent from 100 ethnically matched controls and public databases, supporting rarity and potential pathogenicity.
Given this solitary report with one heterozygous RET variant and no reported segregation or functional follow-up, the clinical validity of RET in unilateral renal agenesis remains limited. No functional assays have evaluated RET variant impact on nephrogenesis, and genotype-phenotype correlation is undeveloped. Additional replication in independent cohorts and mechanistic studies are required before RET testing can inform diagnosis. Key take-home: RET may play a minor role in unilateral renal agenesis, but current evidence is insufficient for clinical decision-making.
Gene–Disease AssociationLimitedSingle study with one heterozygous RET variant in 86 unrelated URA patients; no segregation or functional data ([PMID:28618409]). Genetic EvidenceLimitedOne heterozygous RET variant identified among seven candidate genes in a cohort of 86 URA probands ([PMID:28618409]). Functional EvidenceNoneNo functional studies evaluating RET variants in the context of unilateral renal agenesis. |