Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048970 | SCV001213000 | uncertain significance | Marinesco-Sjögren syndrome | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 78 of the SIL1 protein (p.Ala78Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs763221847, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with SIL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002552653 | SCV003605947 | uncertain significance | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | The c.232G>T (p.A78S) alteration is located in exon 3 (coding exon 2) of the SIL1 gene. This alteration results from a G to T substitution at nucleotide position 232, causing the alanine (A) at amino acid position 78 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001048970 | SCV004237288 | uncertain significance | Marinesco-Sjögren syndrome | 2023-10-11 | criteria provided, single submitter | clinical testing |