ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.4451A>T (p.Asp1484Val)

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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 RCV004996528 SCV005526766 uncertain significance Cardiovascular phenotype 2024-10-07 criteria provided, single submitter clinical testing The p.D1484V variant (also known as c.4451A>T), located in coding exon 11 of the TNXB gene, results from an A to T substitution at nucleotide position 4451. The aspartic acid at codon 1484 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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