ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) (rs142577271)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198411 SCV000250731 uncertain significance not provided 2013-06-28 criteria provided, single submitter clinical testing p.Arg534Cys (CGC>TGC): c.1600 C>T in exon 5 of the SLC2A10 gene (NM_030777.3). The Arg534Cys variant in the SLC2A10 gene has not been reported as a disease-causing mutation nor as a benign polymorphism to our knowledge. Arg534Cys results in a non-conservative amino acid substitution of a positively charged Arginine with a neutral, polar Cysteine at a position that is not well conserved across species. In silico analysis predicts Arg534Cys is probably damaging to the protein structure/function. The Arg534Cys variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, no mutations in nearby codons have been reported in association with aterial tortuosity syndrome (ATS). With the clinical and molecular information available at this time, we cannot definitively determine if Arg534Cys is a disease-causing mutation or a rare benign variant. This variant was found in TAAD
Invitae RCV000526612 SCV000644161 uncertain significance Arterial tortuosity syndrome 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 534 of the SLC2A10 protein (p.Arg534Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs142577271, ExAC 0.003%). This variant has not been reported in the literature in individuals with a SLC2A10-related disease. ClinVar contains an entry for this variant (Variation ID: 213742). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SLC2A10 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000619832 SCV000739647 uncertain significance Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing The p.R534C variant (also known as c.1600C>T), located in coding exon 5 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 1600. The arginine at codon 534 is replaced by cysteine, an amino acid with highly dissimilar 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171033 SCV001333702 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-01-25 criteria provided, single submitter clinical testing

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