ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.251T>G (p.Val84Gly)

dbSNP: rs2515586847
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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 RCV002433044 SCV002741646 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-28 criteria provided, single submitter clinical testing The p.V84G variant (also known as c.251T>G), located in coding exon 2 of the SLC2A10 gene, results from a T to G substitution at nucleotide position 251. The valine at codon 84 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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