ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2159+2T>G

dbSNP: rs1553775177
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.

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