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In a study of 51 Ghanaian families with hearing impairment and negative for common GJB2 variants (PMID:35440622), MYO19 emerged as one of seven novel candidate genes. Although no specific MYO19 variant was definitively reported, the gene was replicated in unrelated probands, suggesting a potential role in the disorder. Limited segregation data were available, and while the overall evidence does not yet meet higher ClinGen thresholds, the recurrence across independent families supports its candidacy in hearing loss.
Functional evidence indicates that MYO19 is expressed in the mouse inner ear (PMID:35440622), which is concordant with the auditory phenotype. Nevertheless, further functional assays and detailed variant-level data are needed to bolster the association. Key take‑home: MYO19 represents a promising candidate gene for hearing loss disorder that may eventually aid diagnostic decision‑making, pending additional supporting evidence.
Gene–Disease AssociationLimitedMYO19 was identified as a novel candidate gene in a cohort of 51 families, with replication in unrelated probands (PMID:35440622) but lacking robust segregation and specific variant evidence. Genetic EvidenceLimitedThe genetic evidence for MYO19 is limited to its appearance in candidate gene analysis and replication in independent samples; no specific variant has been definitively implicated. Functional EvidenceLimitedMYO19 expression in mouse inner ear supports a role in auditory function; however, additional functional assays are required to firmly establish its pathogenic mechanism. |