ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) (rs3730238)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172779 SCV000051611 benign Primary familial hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036617 SCV000060272 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000036617 SCV000169024 benign not specified 2011-07-14 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,PreventionGenetics RCV000036617 SCV000305600 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254202 SCV000317815 benign Cardiovascular phenotype 2015-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300748 SCV000353316 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336926 SCV000353317 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403500 SCV000353318 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297085 SCV000353319 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588643 SCV000697568 benign not provided 2016-08-24 criteria provided, single submitter clinical testing Variant summary: The TNNT2 c.758A>G (p.Lys253Arg) variant involves the alteration of a conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant. This variant was found in 6169/122538 control chromosomes (378 homozygotes) at a frequency of 0.0503436, which is approximately 288 times the estimated maximal expected allele frequency of a pathogenic TNNT2 variant (0.000175), suggesting this variant is likely a benign polymorphism. In literature, this variant has been reported as a polymorphism found in HCM patients as well as healthy controls (Watkins_1995, Torricelli_2003, Garcia_Castro_2007, etc.). It has also been found to not cosegregate with disease in HCM families (Watkins_1995). In a mammalian two-hybrid assay, L253R mutant did not affect on interactions between TnT and TnI or TnT and TnC (Mogensen_2004). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.
Color RCV000771068 SCV000902586 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000588643 SCV000987477 benign not provided criteria provided, single submitter clinical testing
Invitae RCV001083231 SCV001000591 benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2019-12-31 criteria provided, single submitter clinical testing

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