ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp)

gnomAD frequency: 0.00003  dbSNP: rs727503620
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Total submissions: 3
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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 RCV000152343 SCV000201242 uncertain significance not specified 2013-10-21 criteria provided, single submitter clinical testing The Arg14259Trp variant in TTN has previously reported in individuals with cardi omyopathy or in large population studies. Computational analyses (biochemical am ino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provid e strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV002483318 SCV002781608 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 2021-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436960 SCV004152398 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing

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