ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)

gnomAD frequency: 0.00006  dbSNP: rs727505306
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Total submissions: 5
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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 RCV000156844 SCV000206565 uncertain significance not specified 2014-09-29 criteria provided, single submitter clinical testing The Thr32173Ile variant in TTN gene has not been previously reported in individu als with cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong evidence for or against a n impact to the protein.In summary, the clinical significance of the Thr32173Ile variant is uncertain.
Invitae RCV000231220 SCV000286402 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725412 SCV000336793 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725412 SCV001146303 uncertain significance not provided 2019-04-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505180 SCV002812833 uncertain significance 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 2021-09-02 criteria provided, single submitter clinical testing

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