ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.4960C>T (p.Arg1654Cys)

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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 RCV002351336 SCV002645750 uncertain significance Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing The p.R1654C variant (also known as c.4960C>T), located in coding exon 12 of the TNXB gene, results from a C to T substitution at nucleotide position 4960. The arginine at codon 1654 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well 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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