ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)

dbSNP: rs372013419
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Total submissions: 6
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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 RCV000154939 SCV000204621 uncertain significance not specified 2014-05-28 criteria provided, single submitter clinical testing The Ile14389Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8218 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; db SNP rs372013419). Isoleucine (Ile) at position 14389 is not well conserved in ev olution and 3 species (alligator, turtle, and lizard) carry a valine (Val) at th is position, raising the possibility that this change may be tolerated. In summa ry, the clinical significance of the Ile14389Val variant is uncertain.
Invitae RCV000557157 SCV000643299 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727305 SCV000707448 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764333 SCV000895352 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 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000727305 SCV003822346 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing
New York Genome Center RCV003448271 SCV004176192 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2023-05-15 criteria provided, single submitter clinical testing

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