ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.4198G>A (p.Asp1400Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002327811 SCV002628590 uncertain significance Cardiovascular phenotype 2024-08-19 criteria provided, single submitter clinical testing The p.D1400N variant (also known as c.4198G>A), located in coding exon 10 of the TNXB gene, results from a G to A substitution at nucleotide position 4198. The aspartic acid at codon 1400 is replaced by asparagine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004770450 SCV005379038 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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