R324G (p.Arg324Gly) variant of MITF (O75030)
R324G (p.Arg324Gly) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndrome; Waardenburg. The record also includes published literature and structural context.
R324G (p.Arg324Gly) variant details
- p.Arg324Gly
- rs1057519326
- ClinGen CA16044011
- ClinVar RCV000416288
- ClinVar RCV000416308
- Conflicting interpretations
- Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndrome; Waardenburg
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndr)
- EBI: Pathogenic (in COMMAD)
- UniProt: Pathogenic (in COMMAD)
- Structural context available
- Cited in: Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (PMID 27889061)