ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly)

gnomAD frequency: 0.00004  dbSNP: rs190193836
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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 RCV000155003 SCV000204685 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Ser4651Gly variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8596 European American chromosom es and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs190193836). Computational predictio n tools and conservation analysis are limited or unavailable for this variant. A dditional information is needed to fully assess the clinical significance of the Ser4651Gly variant.
Eurofins Ntd Llc (ga) RCV000726957 SCV000704430 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498746 SCV002792590 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 2021-09-08 criteria provided, single submitter clinical testing

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