ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1025A>C (p.Lys342Thr)

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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 RCV002380665 SCV002692884 uncertain significance Cardiovascular phenotype 2022-03-23 criteria provided, single submitter clinical testing The p.K342T variant (also known as c.1025A>C), located in coding exon 8 of the NEXN gene, results from an A to C substitution at nucleotide position 1025. The lysine at codon 342 is replaced by threonine, an amino acid with 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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