Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001201870 | SCV001372961 | pathogenic | Arterial tortuosity syndrome | 2022-10-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt SLC2A10 protein function. ClinVar contains an entry for this variant (Variation ID: 933623). This missense change has been observed in individuals with arterial tortuosity syndrome (PMID: 25373504, 29323665). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs201268555, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 489 of the SLC2A10 protein (p.Gly489Arg). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004768906 | SCV005381617 | likely pathogenic | Familial aortopathy | 2024-08-01 | criteria provided, single submitter | clinical testing | Variant summary: SLC2A10 c.1465G>C (p.Gly489Arg) results in a non-conservative amino acid change located in the Major facilitator superfamily domain (IPR020846) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251474 control chromosomes. c.1465G>C has been reported in the literature in individuals affected with Aortopathy (Beyens_2018, Ritelli_2014). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29323665, 25373504). ClinVar contains an entry for this variant (Variation ID: 933623). Based on the evidence outlined above, the variant was classified as likely pathogenic. |