Submissions for variant NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)

gnomAD frequency: 0.00273  dbSNP: rs17850194

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036317	SCV000059969	benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing	p.Tyr60Tyr in exon 2 of TPM1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.9% (98/10336) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs17850194).
GeneDx	RCV000036317	SCV000169035	benign	not specified	2013-04-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000226718	SCV000285665	benign	Hypertrophic cardiomyopathy	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252086	SCV000320345	likely benign	Cardiovascular phenotype	2016-12-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000036317	SCV001159424	likely benign	not specified	2019-06-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190413	SCV001357893	benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036317	SCV004038011	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000226718	SCV004815438	benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530147	SCV001744870	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036317	SCV001924052	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036317	SCV001959584	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000226718	SCV003803071	benign	Hypertrophic cardiomyopathy	2022-09-27	no assertion criteria provided	clinical testing