ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1439G>C (p.Arg480Pro)

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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 RCV003182177 SCV003861877 uncertain significance Cardiovascular phenotype 2023-01-20 criteria provided, single submitter clinical testing The p.R480P variant (also known as c.1439G>C), located in coding exon 2 of the TNXB gene, results from a G to C substitution at nucleotide position 1439. The arginine at codon 480 is replaced by proline, 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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