ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.242A>C (p.Glu81Ala)

dbSNP: rs1567946170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459863 SCV002737445 likely pathogenic Cardiovascular phenotype 2019-03-10 criteria provided, single submitter clinical testing The p.E81A variant (also known as c.242A>C), located in coding exon 3 of the TTR gene, results from an A to C substitution at nucleotide position 242. The glutamic acid at codon 81 is replaced by alanine, an amino acid with dissimilar properties. Two variants affecting this codon, p.E81G and p.E81K (also known as E61G and E61K, respectively), have been reported in individuals with transthyretin amyloidosis (Rosenzweig M et al. Amyloid, 2007 Mar;14:65-71; Noto Y et al. Amyloid, 2009;16:99-102; Murakami T et al. J. Neurol. Sci., 2017 Oct;381:55-58). This amino acid position is poorly conserved in available vertebrate species. This variant was not reported in the gnomAD database, with coverage at this position. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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