ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)

gnomAD frequency: 0.00002  dbSNP: rs777604168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480486 SCV000573717 uncertain significance not provided 2020-08-20 criteria provided, single submitter clinical testing 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 RCV001088256 SCV000765713 likely benign Arterial tortuosity syndrome 2023-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302717 SCV003999282 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-09 criteria provided, single submitter clinical testing The p.D292E variant (also known as c.876C>A), located in coding exon 2 of the SLC2A10 gene, results from a C to A substitution at nucleotide position 876. The aspartic acid at codon 292 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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.

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