ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.830C>T (p.Ala277Val)

dbSNP: rs199476320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852575 SCV002201868 uncertain significance Hypertrophic cardiomyopathy 2021-09-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 31896). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 20215591; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 277 of the TPM1 protein (p.Ala277Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Muscular Dystrophy (TPM1) RCV000024592 SCV000045901 not provided not provided 2012-04-15 no assertion provided curation

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.