ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14911A>G (p.Ile4971Val)

gnomAD frequency: 0.00003  dbSNP: rs727504687
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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 RCV000155961 SCV000205673 uncertain significance not specified 2013-08-15 criteria provided, single submitter clinical testing The Ile4971Val variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses are limited or un available for this variant. Additional information is needed to fully assess the clinical significance of the Ile4971Val variant.
Fulgent Genetics, Fulgent Genetics RCV002492590 SCV002797047 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 2022-01-24 criteria provided, single submitter clinical testing

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