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Clinical evaluation of 35 heterozygous carriers from two Swedish families confirmed that the PITPNM3 missense variant c.1878G>C (p.Gln626His) causes autosomal dominant Cone-rod dystrophy 5 (PITPNM3). Affected individuals exhibited early childhood subnormal visual acuity, photophobia, and macular degeneration, progressing to legal blindness in early adulthood with electrophysiology demonstrating selective cone photoreceptor dysfunction and preserved rod responses ([PMID:22405330]). Genetic segregation across both families supports the causative role of this recurrent variant, although no functional assays have been reported.
Gene–Disease AssociationLimitedTwo Swedish families (35 carriers) segregating the recurrent missense variant c.1878G>C (p.Gln626His) with concordant cone‐specific dysfunction and preserved rod function ([PMID:22405330]) Genetic EvidenceLimitedSingle recurrent missense variant observed in two families without additional unrelated cases Functional EvidenceLimitedNo functional or mechanistic studies reported |