ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)

gnomAD frequency: 0.00699  dbSNP: rs77615401
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Total submissions: 27
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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 RCV000036277 SCV000059929 benign not specified 2012-02-09 criteria provided, single submitter clinical testing Pro82Ser in exon 5 of TNNI3: This variant is classified as benign based on its h igh frequency in the general population (dbSNP rs77615401; NHLBI Exome Sequencin g Project, http://evs.gs.washington.edu/EVS). A=57/G=2853
GeneDx RCV000224174 SCV000169016 benign not provided 2018-12-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23299917, 22995991, 25324519, 20981092, 18175163, 23967088, 11815426, 27150586, 21310275, 27532831, 26332594, 31006259)
Eurofins NTD LLC (GA) RCV000036277 SCV000230914 benign not specified 2014-05-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224174 SCV000280723 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000229361 SCV000284653 benign Hypertrophic cardiomyopathy 2021-12-18 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238609 SCV000296906 likely benign Cardiomyopathy 2015-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036277 SCV000303833 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252511 SCV000319864 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Laboratory Services,Illumina RCV000271700 SCV000414756 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000229361 SCV000414757 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000367372 SCV000414758 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000277490 SCV000414759 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000224174 SCV000696594 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant Summary: The c.244C>T variant involves the alteration of a conserved nucleotide and 4/5 in silico tools predict a deleterious outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.17%, predominantly observed in the African subpopulation at a frequency of 2.3% including 3 homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in TNNI3 (0.0125%), suggesting this is a benign polymorphism found primarily in population(s) of African origin. The variant has been reported in the literature in HCM patients and controls, mostly of African descent. However, mouse model studies have suggested the variant to be a disease-modifying factor for dysfunction and adverse remodeling with aging and chronic pressure overload (Ramirez-Correa_2015), although the relationship of this finding to a monogenic causation is unclear, therefore the evidence is not weighed in its classification. Multiple reputable clinical labs have classified the variant as benign. Taken together, this variant is classified as Benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000224174 SCV000987343 benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852767 SCV000995485 benign Amyloidogenic transthyretin amyloidosis; Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001133540 SCV001293244 likely benign Dilated cardiomyopathy 2A 2018-04-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV001135028 SCV001294793 likely benign Cardiomyopathy, familial restrictive, 1 2018-04-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000013233 SCV001294794 likely benign Hypertrophic cardiomyopathy 7 2018-04-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000238609 SCV001333212 likely benign Cardiomyopathy 2019-03-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000238609 SCV001350457 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224174 SCV001471798 likely benign not provided 2020-01-31 criteria provided, single submitter clinical testing
OMIM RCV000013233 SCV000033480 risk factor Hypertrophic cardiomyopathy 7 2008-07-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224174 SCV001742484 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224174 SCV001797733 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036277 SCV001921672 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036277 SCV001931510 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000036277 SCV001967717 benign not specified no assertion criteria provided clinical testing

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