Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521208 | SCV000619191 | uncertain significance | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SLC2A10 gene. The G80R variant has not been published as pathogenic or been reported as benign to our knowledge. The G80R variant is observed in 4/10342 (0.04%) alleles from individuals of African background in the Exome Aggregation Consortium (ExAC) dataset, and no individuals were reported to be homozygous (Lek et al., 2016). The G80R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. |
Ambry Genetics | RCV002431483 | SCV002731940 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-01-12 | criteria provided, single submitter | clinical testing | The p.G80R variant (also known as c.238G>A), located in coding exon 2 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 238. The glycine at codon 80 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003403236 | SCV004120342 | uncertain significance | SLC2A10-related condition | 2023-07-11 | criteria provided, single submitter | clinical testing | The SLC2A10 c.238G>A variant is predicted to result in the amino acid substitution p.Gly80Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-45353913-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |