ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln)

gnomAD frequency: 0.00004  dbSNP: rs727504774
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Total submissions: 2
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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 RCV000156090 SCV000205803 uncertain significance not specified 2013-09-26 criteria provided, single submitter clinical testing The Arg11257Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in larger population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the normal function of th e protein. Additional information is needed to fully assess the clinical signifi cance of this variant.
Fulgent Genetics, Fulgent Genetics RCV002478462 SCV002778687 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

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