ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)

dbSNP: rs267607649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057401 SCV000491118 pathogenic not provided 2016-10-24 criteria provided, single submitter clinical testing The E138K pathogenic variant in the LMNA gene has been reported previously in association with Hutchinson-Gilford progeria, seen both as a de novo variant and being inherited from an apparently healthy father who showed a somatic cell mosaicism (Gonzalez-Quereda et al., 2011; Doubaj et al., 2012). The E138K 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 E138K 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E138K as a pathogenic variant.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057401 SCV000088514 not provided not provided no assertion provided not provided

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