ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.133G>T (p.Ala45Ser)

dbSNP: rs104894664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387687 SCV002694544 likely pathogenic Cardiovascular phenotype 2019-12-05 criteria provided, single submitter clinical testing The p.A45S variant (also known as c.133G>T and A25S), located in coding exon 2 of the TTR gene, results from a G to T substitution at nucleotide position 133. The alanine at codon 45 is replaced by serine, an amino acid with similar properties. This variant has been reported in two individuals with TTR amyloidosis (Yazaki M et al. Muscle Nerve, 2003 Oct;28:438-42; Hattori T et al. Amyloid, 2003 Dec;10:229-39; Ihse E et al. Amyloid, 2013 Sep;20:142-50). This amino acid position is highly conserved in available vertebrate species. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.