ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr)

gnomAD frequency: 0.00005  dbSNP: rs144967245
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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 RCV000213839 SCV000272843 uncertain significance not specified 2015-05-18 criteria provided, single submitter clinical testing The p.Ala3613Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 7/66652 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 144967245). Computational prediction tools and conservation analysis are limited or unavailable for this variant. In summary, the clinical significance of the p .Ala3613Thr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002485407 SCV002797024 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 2021-10-25 criteria provided, single submitter clinical testing

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