Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000516993 | SCV000615268 | uncertain significance | not specified | 2017-06-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001299249 | SCV001488333 | uncertain significance | Marinesco-Sjögren syndrome | 2020-01-17 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with SIL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448382). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 374 of the SIL1 protein (p.Trp374Arg). The tryptophan residue is weakly conserved and there is a moderate physicochemical difference between tryptophan and arginine. |