Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002845189 | SCV003615857 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.877A>G (p.S293G) alteration is located in exon 8 (coding exon 7) of the PLS3 gene. This alteration results from a A to G substitution at nucleotide position 877, causing the serine (S) at amino acid position 293 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003777833 | SCV004662314 | uncertain significance | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | 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. 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 not expected to disrupt PLS3 protein function. This variant has not been reported in the literature in individuals affected with PLS3-related conditions. This variant is present in population databases (rs369914417, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 293 of the PLS3 protein (p.Ser293Gly). |