Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV002473040 | SCV000615278 | uncertain significance | not provided | 2022-11-24 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. |
| Fulgent Genetics, |
RCV002476046 | SCV002794341 | uncertain significance | Marinesco-Sjögren syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002476046 | SCV003250684 | uncertain significance | Marinesco-Sjögren syndrome | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 279 of the SIL1 protein (p.Thr279Met). This variant is present in population databases (rs535287958, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SIL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448387). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |