Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001989826 | SCV002229879 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the SI gene. It does not directly change the encoded amino acid sequence of the SI protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs541491902, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1449823). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Breakthrough Genomics, |
RCV001989826 | SCV005189869 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| 3billion | RCV005253956 | SCV005905760 | uncertain significance | Sucrase-isomaltase deficiency | 2024-02-15 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Intron variant In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.46 (>=0.2, moderate evidence for spliceogenicity)]. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline. |