Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196153 | SCV000250730 | uncertain significance | not provided | 2016-12-06 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SLC2A10 gene. The R524K variant has not been published as pathogenic or been reported as benign to our knowledge. Though it has been identified in multiple individuals referred for Marfan/TAAD genetic testing at GeneDx, none of these individuals were homozygous or compound heterozygous for variants in SLC2A10. This variant has been observed in approximately 0.02% of alleles from individuals of European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R524K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. |
Ambry Genetics | RCV002315622 | SCV000739646 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-16 | criteria provided, single submitter | clinical testing | The p.R524K variant (also known as c.1571G>A), located in coding exon 5 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 1571. The arginine at codon 524 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved on limited sequence alignment. 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. |
Invitae | RCV000800770 | SCV000940502 | likely benign | Arterial tortuosity syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000196153 | SCV002544633 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | SLC2A10: BP4 |
Prevention |
RCV003417710 | SCV004117295 | uncertain significance | SLC2A10-related condition | 2023-03-24 | criteria provided, single submitter | clinical testing | The SLC2A10 c.1571G>A variant is predicted to result in the amino acid substitution p.Arg524Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-45362418-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |