ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.335A>T (p.Glu112Val)

dbSNP: rs794728587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182353 SCV000234666 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing The E112V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 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 E112V 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, this variant is located in the alph-helical rod domain of the LMNA gene. However, this substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species. Given the available evidence, we interpret E112V as a variant of uncertain significance.

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