ClinVar Miner

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

gnomAD frequency: 0.00052  dbSNP: rs144045691
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Total submissions: 8
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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

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