ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.10617T>C (p.His3539=)

gnomAD frequency: 0.00042  dbSNP: rs200284932
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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 RCV000040997 SCV000064688 likely benign not specified 2012-07-24 criteria provided, single submitter clinical testing His3539His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (6/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). His3539His in exon 45A of TTN (al lele frequency = 0.1%, 6/7020) **
GeneDx RCV000040997 SCV000515084 benign not specified 2015-08-27 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.
Eurofins Ntd Llc (ga) RCV000040997 SCV000707092 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727546 SCV002063975 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002490573 SCV002802278 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537126 SCV004738683 benign TTN-related disorder 2024-02-20 criteria provided, single submitter 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).
Clinical Genetics, Academic Medical Center RCV000040997 SCV001918238 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727546 SCV001976287 likely benign not provided no assertion criteria provided clinical testing

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