Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002050961 | SCV002117298 | uncertain significance | not provided | 2021-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 429 of the SI protein (p.Ala429Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs556583179, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SI-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SI protein function. 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. |
| Fulgent Genetics, |
RCV002482424 | SCV002787354 | uncertain significance | Sucrase-isomaltase deficiency | 2021-07-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002545366 | SCV003639533 | uncertain significance | Inborn genetic diseases | 2022-08-22 | criteria provided, single submitter | clinical testing | The c.1285G>A (p.A429T) alteration is located in exon 12 (coding exon 11) of the SI gene. This alteration results from a G to A substitution at nucleotide position 1285, causing the alanine (A) at amino acid position 429 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |