ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8290G>A (p.Asp2764Asn)

gnomAD frequency: 0.00004  dbSNP: rs1202460287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278143 SCV002566342 uncertain significance Ehlers-Danlos syndrome 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047534 SCV005027933 uncertain significance Cardiovascular phenotype 2023-12-04 criteria provided, single submitter clinical testing The p.D2764N variant (also known as c.8290G>A), located in coding exon 23 of the TNXB gene, results from a G to A substitution at nucleotide position 8290. The aspartic acid at codon 2764 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.

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