ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)

gnomAD frequency: 0.00083  dbSNP: rs201432372
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Total submissions: 13
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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 RCV000040024 SCV000063715 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Thr7164Ile in exon 84 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (27/9550) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs201432372).
Eurofins Ntd Llc (ga) RCV000040024 SCV000114357 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Invitae RCV000463533 SCV000555624 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000040024 SCV000616033 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001703898 SCV000728907 likely benign not provided 2020-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839552 SCV002102037 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839553 SCV002102038 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839554 SCV002102039 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839551 SCV002102040 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490553 SCV002804289 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 2021-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534875 SCV004742298 likely benign TTN-related disorder 2021-01-27 criteria provided, single submitter clinical testing This variant is classified as likely 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 RCV000040024 SCV001978802 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001703898 SCV001979802 likely benign not provided no assertion criteria provided clinical testing

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