ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.892A>G (p.Asn298Asp)

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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 RCV004996443 SCV005526953 uncertain significance Cardiovascular phenotype 2024-11-05 criteria provided, single submitter clinical testing The p.N298D variant (also known as c.892A>G), located in coding exon 2 of the TNXB gene, results from an A to G substitution at nucleotide position 892. The asparagine at codon 298 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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