ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8243C>T (p.Ser2748Phe)

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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 RCV003377559 SCV004096053 uncertain significance Cardiovascular phenotype 2023-06-29 criteria provided, single submitter clinical testing The p.S2748F variant (also known as c.8243C>T), located in coding exon 23 of the TNXB gene, results from a C to T substitution at nucleotide position 8243. The serine at codon 2748 is replaced by phenylalanine, an amino acid with highly dissimilar 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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