ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)

gnomAD frequency: 0.00001  dbSNP: rs1252274574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770701 SCV000902178 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV001592952 SCV001822279 uncertain significance not provided 2020-06-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001855992 SCV002170640 uncertain significance Arterial tortuosity syndrome 2021-04-26 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 626892). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 48 of the SLC2A10 protein (p.Glu48Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine.
Ambry Genetics RCV000770701 SCV002698492 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-05-10 criteria provided, single submitter clinical testing The p.E48Q variant (also known as c.142G>C), located in coding exon 2 of the SLC2A10 gene, results from a G to C substitution at nucleotide position 142. The glutamic acid at codon 48 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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