ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)

gnomAD frequency: 0.00007  dbSNP: rs369671334
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Total submissions: 6
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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 RCV000218450 SCV000272747 uncertain significance not specified 2015-03-12 criteria provided, single submitter clinical testing The p.Ala21543Pro variant in TTN has not been previously identified in individua ls with cardiomyopathy, but has been identified in 5/66130 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369671334). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala21543Pro variant is uncertain.
Invitae RCV000529114 SCV000643626 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727259 SCV000707047 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764318 SCV000895337 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 2021-11-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727259 SCV003821054 uncertain significance not provided 2023-01-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486776 SCV004240097 likely benign Cardiomyopathy 2023-02-21 criteria provided, single submitter clinical testing

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