Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000816732 | SCV000957254 | uncertain significance | Arterial tortuosity syndrome | 2022-04-06 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 39 of the SLC2A10 protein (p.Asp39Asn). This variant is present in population databases (rs367623970, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 659691). 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 SLC2A10 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. |
| Ambry Genetics | RCV002352435 | SCV002621830 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-08-12 | criteria provided, single submitter | clinical testing | The p.D39N variant (also known as c.115G>A), located in coding exon 2 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 115. The aspartic acid at codon 39 is replaced by asparagine, an amino acid with highly similar 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. |
| Fulgent Genetics, |
RCV000816732 | SCV002780187 | uncertain significance | Arterial tortuosity syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000816732 | SCV003800459 | uncertain significance | Arterial tortuosity syndrome | 2022-04-18 | criteria provided, single submitter | clinical testing | The SLC2A10 c.115G>A; p.Asp39Asn variant (rs367623970), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 659691). This variant is found in the African population with an allele frequency of 0.012% (2/16,256 alleles) in the Genome Aggregation Database. The aspartic acid at codon 39 is moderately conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.217). Due to limited information, the clinical significance of the p.Asp39Asn variant is uncertain at this time. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323732 | SCV004029734 | uncertain significance | not specified | 2024-04-14 | criteria provided, single submitter | clinical testing |