ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1481A>T (p.Asp494Val) (rs750183004)

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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 RCV000621640 SCV000737320 uncertain significance Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing The p.D494V variant (also known as c.1481A>T), located in coding exon 11 of the NEXN gene, results from an A to T substitution at nucleotide position 1481. The aspartic acid at codon 494 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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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