ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.428T>G (p.Ile143Ser) (rs730881136)

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
GeneDx RCV000159362 SCV000209308 pathogenic not provided 2012-02-24 criteria provided, single submitter clinical testing The Ile143Ser variant in the TPM1 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Ile143Ser results in a non-conservative amino acid substitution of a non-polar Isoleucine residue with a polar Serine residue at a position that is class conserved. The NHLBI ESP Exome Variant Server reports Ile143Ser was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in surrounding codons have been reported in association with cardiomyopathy. Also, multiple in silico analyses yield conflicting results regarding the effect of this variant on the protein structure/function. Therefore, Ile143Ser in the TPM1 gene is now interpreted as a likely disease-causing mutation. The variant is found in DCM panel(s).

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.