ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1805C>T (p.Thr602Met) (rs756709134)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183670 SCV000236139 uncertain significance not provided 2015-12-02 criteria provided, single submitter clinical testing p.Thr602Met (T602M) ACG>ATG: c.1805 C>T in exon 13 of the NEXN gene (NM_144573.3). The T602M variant that is likely pathogenic in the NEXN gene has not been published as a mutation or as a benign polymorphism to our knowledge. The T602M variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T602M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is completely conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense mutation in a nearby residue (P611T) has been reported in association with DCM, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in DCM-CRDM panel(s).

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