ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002448016 SCV002676394 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-17 criteria provided, single submitter clinical testing The p.R287Q variant (also known as c.860G>A), located in coding exon 5 of the TGFB3 gene, results from a G to A substitution at nucleotide position 860. The arginine at codon 287 is replaced by glutamine, an amino acid with highly similar 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.
Dept of Medical Biology, Uskudar University RCV003318419 SCV004021952 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2

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