Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726266 | SCV000343265 | uncertain significance | not provided | 2016-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726266 | SCV000577598 | uncertain significance | not provided | 2018-02-14 | criteria provided, single submitter | clinical testing | The A88V variant of uncertain significance in the LMNA gene has not beenpublished as pathogenic or been reported as benign to our knowledge. This variant is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Thissubstitution occurs at a position that is conserved across species, and in silico analysis predicts this variant isprobably damaging to the protein structure/function. However, to our knowledge no studies have been performed todetermine the functional effect of the A88V variant. Furthermore, the A88V variant is a conservative amino acidsubstitution, which is not likely to impact secondary protein structure as these residues share similar properties. |