Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002028619 | SCV002277751 | uncertain significance | not provided | 2021-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 303 of the PDSS2 protein (p.Glu303Gly). This variant is present in population databases (rs545787240, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PDSS2-related conditions. 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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Genome Diagnostics Laboratory, |
RCV002294501 | SCV002587529 | uncertain significance | Kidney disorder | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002625400 | SCV003591335 | uncertain significance | Inborn genetic diseases | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.908A>G (p.E303G) alteration is located in exon 6 (coding exon 6) of the PDSS2 gene. This alteration results from a A to G substitution at nucleotide position 908, causing the glutamic acid (E) at amino acid position 303 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003958462 | SCV004767744 | uncertain significance | PDSS2-related disorder | 2024-02-26 | no assertion criteria provided | clinical testing | The PDSS2 c.908A>G variant is predicted to result in the amino acid substitution p.Glu303Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |