Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Rady Children's Institute for Genomic Medicine, |
RCV001265580 | SCV001443744 | likely pathogenic | Sucrase-isomaltase deficiency | criteria provided, single submitter | clinical testing | This nonsense variant in exon 41 of 48 of the SI gene is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.005% (15/281338) and is absent in the homozygous state, thus is presumed to be rare. Based on the available evidence, the c.4825C>T (p.Arg1609Ter) variant is classified as Likely Pathogenic. | |
| Labcorp Genetics |
RCV001880092 | SCV002165299 | pathogenic | not provided | 2024-03-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1609*) in the SI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SI are known to be pathogenic (PMID: 16329100, 23103650, 25452324). This variant is present in population databases (rs200328403, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with sucrase-isomaltase deficiency (PMID: 36007526). ClinVar contains an entry for this variant (Variation ID: 984937). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001265580 | SCV002794258 | likely pathogenic | Sucrase-isomaltase deficiency | 2024-06-19 | criteria provided, single submitter | clinical testing |