Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002453259 | SCV002736015 | likely pathogenic | Cardiovascular phenotype | 2019-01-30 | criteria provided, single submitter | clinical testing | The p.E81K variant (also known as c.241G>A), located in coding exon 3 of the TTR gene, results from a G to A substitution at nucleotide position 241. The glutamic acid at codon 81 is replaced by lysine, an amino acid with similar properties. This variant (also referred to as Glu61lys) has been reported in TTR amyloidosis cohorts and in individuals reported to have transthyretin amyloidosis characterized by later onset sensory-autonomic polyneuropathy and cardiomyopathy (Planté-Bordeneuve V et al. J. Med. Genet., 2003 Nov;40:e120; Noto Y et al. Amyloid, 2009;16:99-102; Hagenacker T et al. J. Neurol. Sci., 2014 Nov;346:331-2; Murakami T et al. J. Neurol. Sci., 2017 Oct;381:55-58; Nakano Y et al. J. Neurol. Sci., 2018 Jul;390:22-25). In addition, another variant affecting this codon (p.E81G, c.242A>G and referred to as Glu61Gly) has also been reported in an individual with transthyretin amyloidosis (Rosenzweig M et al. Amyloid, 2007 Mar;14:65-71). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
| OMIM | RCV000014389 | SCV000034638 | pathogenic | Amyloidosis, hereditary systemic 1 | 1993-08-16 | no assertion criteria provided | literature only |