ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9389G>T (p.Gly3130Val)

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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 RCV003182217 SCV003861919 uncertain significance Cardiovascular phenotype 2023-03-07 criteria provided, single submitter clinical testing The p.G3128V variant (also known as c.9383G>T), located in coding exon 26 of the TNXB gene, results from a G to T substitution at nucleotide position 9383. The glycine at codon 3128 is replaced by valine, 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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