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This summary assesses the association between SLC25A2 and gastric cancer as having a Limited level of clinical validity. The available evidence stems from a single patient case report and a replicated multi‐patient study (PMID:30977266) where a patient with gastric cancer developed hyperammonemia and cognitive impairment following capecitabine treatment. Although exome sequencing of a panel of 43 urea cycle-related genes was performed, no SLC25A2-specific variant was explicitly reported. This absence of direct variant evidence, combined with the limited segregation data (no additional affected relatives), warrants this lower confidence classification.
The genetic evidence remains limited, as no definitive SLC25A2 variant (e.g. an HGVS-described variant) has been identified despite the gene’s inclusion in the screening panel. Functional assessment studies were initiated but did not provide direct insights into SLC25A2 pathogenicity. Nevertheless, the reported clinical features—hyperammonemia (HP:0001987) and cognitive impairment (HP:0100543)—support further investigation, with the key take‑home message being that despite limited evidence, awareness of this possible association may aid diagnostic decision‑making and prompt further research.
Gene–Disease AssociationLimitedSingle-patient report with replication in a multi-patient study (PMID:30977266); absence of multiple unrelated probands or clear segregation data. Genetic EvidenceLimitedNo SLC25A2-specific variants have been reported despite its inclusion in the gene panel, limiting the strength of genetic evidence. Functional EvidenceLimitedFunctional studies were undertaken but did not provide direct evidence of SLC25A2 pathogenicity in the context of gastric cancer. |