ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)

gnomAD frequency: 0.00001  dbSNP: rs727503580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002478435 SCV002780060 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 2021-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643505 SCV000765192 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152255 SCV000201075 uncertain significance not specified 2013-09-26 criteria provided, single submitter clinical testing The Ile19222Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in larger population studies. Computational analyses (bio chemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) su ggest that this variant may not impact the normal function of the protein. Addi tional information is needed to fully assess the clinical significance of this v ariant.

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