Submissions for variant NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)

gnomAD frequency: 0.00007  dbSNP: rs763889166

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310987	SCV000319784	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2015-06-26	criteria provided, single submitter	clinical testing	The p.T194I variant (also known as c.581C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 581. The threonine at codon 194 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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.
Invitae	RCV000467385	SCV000549179	likely benign	Arterial tortuosity syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701834	SCV001928714	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701834	SCV001956764	likely benign	not provided		no assertion criteria provided	clinical testing