Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703957 | SCV000832887 | uncertain significance | Arterial tortuosity syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 201 of the SLC2A10 protein (p.Leu201Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs199861432, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV002352203 | SCV002656225 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-18 | criteria provided, single submitter | clinical testing | The p.L201F variant (also known as c.601C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 601. The leucine at codon 201 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is 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. |