ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)

gnomAD frequency: 0.00001  dbSNP: rs727504678
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Total submissions: 4
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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 RCV000155947 SCV000205659 uncertain significance not specified 2013-07-31 criteria provided, single submitter clinical testing The Cys24603Arg variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Cys24603Arg variant.
Invitae RCV000474180 SCV000542811 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484942 SCV002794270 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 2021-11-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137674 SCV003827389 uncertain significance not provided 2021-09-11 criteria provided, single submitter clinical testing

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