Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605151 | SCV000731710 | likely pathogenic | Sucrase-isomaltase deficiency | 2017-06-29 | criteria provided, single submitter | clinical testing | The c.2159+2T>G (NM_001041.3, p.?) variant in SI has not been previously reporte d in the literature and was absent from large population studies. This variant o ccurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Bi allelic loss of function of the SI gene has been associated with sucrase isomalt ase deficiency. In summary, although additional studies are required to fully es tablish a null effect on the protein, the c.2159+2T>G variant in the SI gene is likely pathogenic for congenital sucrase isomaltase deficiency in an autosomal r ecessive manner based on its predicted impact on the protein. |