Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Excellence in Genomics and Precision Dentistry, |
RCV001789608 | SCV002029230 | pathogenic | Congenital malabsorptive diarrhea 4 | criteria provided, single submitter | clinical testing | The homozygous missense variant, c.371C>G (p.Thr124Arg), in the NEUROG3 gene was identified in patient with congenital malabsorptive diarrhea and IDDM. The parents are consanguineous and possessed the heterozygous variant. Homozygous and heterozygous variants in NEUROG3 were previously reported in an autosomal recessive congenital malabsorptive diarrhea (J Wang 2006, O Rubio-Cabezas 2011). This variant was classified as pathogenic based on ACMG guidelines. |