Submissions for variant NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)

gnomAD frequency: 0.05001  dbSNP: rs11558747

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036337	SCV000059989	benign	not specified	2016-05-10	criteria provided, single submitter	clinical testing	p.Tyr162Tyr in exon 4 of TPM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 8% (5101/66566) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs11558747).
GeneDx	RCV000036337	SCV000169033	benign	not specified	2011-06-27	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.
PreventionGenetics, part of Exact Sciences	RCV000036337	SCV000305849	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243351	SCV000317458	benign	Cardiovascular phenotype	2015-03-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000338013	SCV000393209	likely benign	Dilated cardiomyopathy 1Y	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001094283	SCV000393210	benign	Hypertrophic cardiomyopathy 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000399052	SCV000558813	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000024585	SCV000987487	benign	not provided		criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170567	SCV001333154	benign	Cardiomyopathy	2018-07-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001170567	SCV001349540	benign	Cardiomyopathy	2018-04-03	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV001170567	SCV003803073	benign	Cardiomyopathy	2022-09-27	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000399052	SCV003803653	likely benign	Hypertrophic cardiomyopathy	2022-09-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036337	SCV003929101	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (TPM1)	RCV000024585	SCV000045894	not provided	not provided	2012-04-15	no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000036337	SCV001924768	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036337	SCV001958374	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036337	SCV001973183	benign	not specified		no assertion criteria provided	clinical testing