ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.88T>C (p.Ser30Pro)

dbSNP: rs2515586047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004517817 SCV005029170 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-07 criteria provided, single submitter clinical testing The p.S30P variant (also known as c.88T>C), located in coding exon 2 of the SLC2A10 gene, results from a T to C substitution at nucleotide position 88. The serine at codon 30 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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