ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.382G>A (p.Val128Met)

dbSNP: rs958078989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478212 SCV000571017 uncertain significance not provided 2016-07-20 criteria provided, single submitter clinical testing The V128M variant in the CHRNE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V128M variant was not observed in approximately 6500 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 V128M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties; however, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V128M as a variant of uncertain significance.
Natera, Inc. RCV001835815 SCV002087527 uncertain significance Congenital myasthenic syndrome 2021-04-21 no assertion criteria provided clinical testing

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