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Recent evidence from a family‑based whole‑exome sequencing study (PMID:32107856) has implicated CCDC61 (HGNC:33629) as a candidate gene for relapsing polychondritis (MONDO_0019125). In this study, a candidate allele (reported as rs777816675) was detected in a 32‑year‑old Chinese female proband and found to segregate with disease in her affected mother (PMID:32107856). Although the reported variant is not presented as a complete HGVS coding change, its identification in a familial context supports a potential, albeit preliminary, role for CCDC61 in disease predisposition.
Genetic evidence remains limited, as the association is based on a single family case with only one additional affected relative demonstrating segregation (PMID:32107856). Furthermore, functional evaluation of candidate genes in the same study did not include gene‑specific assays for CCDC61, leaving the underlying mechanism of pathogenicity uncharacterized. In summary, while the initial findings provide an interesting insight into the genetic architecture underlying relapsing polychondritis, further independent genetic and experimental studies are needed before the association can be fully integrated into diagnostic decision‑making, commercial applications, or clinical publication.
Gene–Disease AssociationLimitedAssociation based on a single-family report with segregation in one additional affected relative (PMID:32107856). Genetic EvidenceLimitedOnly one candidate allele was identified in the proband and confirmed in an affected parent, without multiple independent cases or extensive variant spectrum (PMID:32107856). Functional EvidenceLimitedNo gene‑specific functional assays have been conducted for CCDC61. Evidence is limited to inferences from a multi‑gene candidate panel study (PMID:32107856). |