ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr)

gnomAD frequency: 0.00011  dbSNP: rs876658096
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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 RCV000216239 SCV000272815 uncertain significance not specified 2015-07-29 criteria provided, single submitter clinical testing The p.Asn29910Thr variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asn29910Thr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002478779 SCV002787148 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 2022-02-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137819 SCV003827313 uncertain significance not provided 2021-03-22 criteria provided, single submitter clinical testing

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