Submissions for variant NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)

gnomAD frequency: 0.00052  dbSNP: rs144045691

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036637	SCV000060292	likely benign	not specified	2012-09-21	criteria provided, single submitter	clinical testing	Lys259Glu in exon 10 of TPM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.6% (3/186) of Finnish chromosomes b y the 1000 genomes project (rs144045691). At this frequency it is unlikely disea se causing though a modifying role cannot be excluded. Lys259Glu in exon 10 of TPM1 (rs144045691; allele frequency = 1.6%, 3/186)
GeneDx	RCV001701646	SCV000209338	likely benign	not provided	2019-01-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23785128, 28798025, 30847666)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000036637	SCV000747942	uncertain significance	not specified	2017-07-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176802	SCV001340859	benign	Cardiomyopathy	2018-06-18	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000143960	SCV000188841	uncertain significance	Primary familial hypertrophic cardiomyopathy	2013-11-19	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036637	SCV001920049	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701646	SCV001927983	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701646	SCV001952935	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952419	SCV004785312	benign	TPM1-related disorder	2019-08-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).