ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

gnomAD frequency: 0.00011  dbSNP: rs181957743
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192710 SCV000249269 uncertain significance not specified 2015-04-17 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000192710 SCV000257867 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000464720 SCV000555361 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000192710 SCV000711410 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val16457Ile v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been reported in ClinVar (Variation ID 212474). This variant has been identified in 0.14% (16/11350) of Latino chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181957743). Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val16457Ile variant is uncertain, its frequency suggests that it is mo re likely to be benign.
GeneDx RCV001697236 SCV000719435 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001697236 SCV003825870 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing

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