ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84625A>G (p.Ile28209Val)

dbSNP: rs753472730
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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 RCV000605379 SCV000713216 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing The p.Ile25641Val variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/17174 of East Asian chromosom es by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/ ; dbSNP rs753472730). Computational prediction tools and conservation analysis d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Ile25641Val variant is uncertain.
Revvity Omics, Revvity RCV003139905 SCV003819592 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing

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