ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser)

gnomAD frequency: 0.00009  dbSNP: rs876658078
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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 RCV000219859 SCV000272736 uncertain significance not specified 2015-12-23 criteria provided, single submitter clinical testing The p.Gly20301Ser variant in TTN has not been previously reported in individuals with cardiomyopathy and is absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Gly20301Ser variant is uncertain.
Revvity Omics, Revvity Omics RCV003137814 SCV003825519 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing

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