ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp)

gnomAD frequency: 0.00019  dbSNP: rs201150247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315215 SCV000739643 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-13 criteria provided, single submitter clinical testing The p.R130W variant (also known as c.388C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 388. The arginine at codon 130 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and tryptophan is the reference amino acid in other 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644026 SCV000765714 uncertain significance Arterial tortuosity syndrome 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 130 of the SLC2A10 protein (p.Arg130Trp). This variant is present in population databases (rs201150247, gnomAD 0.04%). 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: 520172). 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.
GeneDx RCV001566144 SCV001789621 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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