Submissions for variant NM_001018005.2(TPM1):c.*5_*8del

dbSNP: rs786204415

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000168998	SCV000272537	uncertain significance	not specified	2015-03-04	criteria provided, single submitter	clinical testing	The *5_*8delCTTT variant in TPM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/52726 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This v ariant is a deletion of 3 bases in the 3? untranslated region (3' UTR). It is un clear what, if any, impact this would have on the protein. In summary, the clini cal significance of the *5_*8delCTTT variant is uncertain.
Color Diagnostics, LLC DBA Color Health	RCV001180807	SCV001345828	uncertain significance	Cardiomyopathy	2023-02-28	criteria provided, single submitter	clinical testing	This variant results in a deletion of 3 nucleotides from the 3' untranslated region of the TPM1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/244404 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001180807	SCV003837756	uncertain significance	Cardiomyopathy	2021-11-16	criteria provided, single submitter	clinical testing