ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)

gnomAD frequency: 0.00002  dbSNP: rs765930349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726940 SCV000704319 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000595597 SCV000713847 uncertain significance not specified 2018-02-02 criteria provided, single submitter clinical testing The p.Ile20508Thr variant in TTN has not been previously reported in individuals with cardiomyopathy but it has been identified in 1/15274 African chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs765930349). Computational prediction tools and conservation analysis sugges t that the p.Ile20508Thr variant may not impact the protein, though this informa tion is not predictive enough to rule out pathogenicity. In summary, the clinica l significance of the p.Ile20508Thr variant is uncertain. ACMG/AMP Criteria appl ied: BP4.
Mayo Clinic Laboratories, Mayo Clinic RCV000726940 SCV002541934 uncertain significance not provided 2021-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726940 SCV003827344 uncertain significance not provided 2021-05-31 criteria provided, single submitter clinical testing

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