ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)

gnomAD frequency: 0.00185  dbSNP: rs182126530
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Total submissions: 12
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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 RCV000040668 SCV000051472 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040668 SCV000064359 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile24612Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (18/3170) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). Ile24612Thr in exon 275 of TTN (allele frequency = 0.6%, 18/3170) **
Eurofins Ntd Llc (ga) RCV000040668 SCV000228530 likely benign not specified 2014-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000461664 SCV000237616 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 24033266)
Invitae RCV001086543 SCV000555017 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620281 SCV000737342 likely benign Cardiovascular phenotype 2018-12-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768913 SCV000900286 benign Cardiomyopathy 2023-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000461664 SCV001152721 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040668 SCV004038597 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000461664 SCV001799049 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000040668 SCV001919791 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000461664 SCV001965407 likely benign not provided no assertion criteria provided clinical testing

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