ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1678C>T (p.Pro560Ser)

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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 RCV002405977 SCV002710975 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The p.P560S variant (also known as c.1678C>T), located in coding exon 2 of the TNXB gene, results from a C to T substitution at nucleotide position 1678. The proline at codon 560 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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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