ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His)

gnomAD frequency: 0.00002  dbSNP: rs746480018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701517 SCV000830320 uncertain significance Arterial tortuosity syndrome 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 534 of the SLC2A10 protein (p.Arg534His). This variant is present in population databases (rs746480018, gnomAD 0.002%). 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: 578495). 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.
CeGaT Center for Human Genetics Tuebingen RCV000997786 SCV001153494 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822181 SCV005508851 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-25 criteria provided, single submitter clinical testing The p.R534H variant (also known as c.1601G>A), located in coding exon 5 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 1601. The arginine at codon 534 is replaced by histidine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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