ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.374G>A (p.Arg125Gln) (rs747265816)

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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 RCV000621766 SCV000737277 uncertain significance Cardiovascular phenotype 2017-05-25 criteria provided, single submitter clinical testing The p.R125Q variant (also known as c.374G>A), located in coding exon 4 of the NEXN gene, results from a G to A substitution at nucleotide position 374. The arginine at codon 125 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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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