ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)

gnomAD frequency: 0.00061  dbSNP: rs563376340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198548 SCV000250728 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000477467 SCV000549186 likely benign Arterial tortuosity syndrome 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315621 SCV000739645 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-08 criteria provided, single submitter clinical testing The p.T472I variant (also known as c.1415C>T), located in coding exon 4 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 1415. The threonine at codon 472 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.

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