Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000057401 | SCV000088514 | not provided | not provided | no assertion provided | not provided |