ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)

gnomAD frequency: 0.00002  dbSNP: rs727504491
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Total submissions: 9
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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 RCV000155626 SCV000205334 uncertain significance not specified 2014-02-27 criteria provided, single submitter clinical testing The Ile32620Leu variant in TTN has now been identified by our laboratory in 1 in dividual with HCM and 1 individual with ARVC/DCM. It was absent from large popul ation studies. Computational prediction tools and conservation analysis do not p rovide strong support for or against an impact to the protein. Additional inform ation is needed to fully assess the clinical significance of the Ile32620Leu var iant.
Eurofins Ntd Llc (ga) RCV000729504 SCV000857173 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000729504 SCV003821044 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000729504 SCV004225013 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000729504 SCV001918318 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000729504 SCV001928134 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000729504 SCV001951906 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000729504 SCV001972129 uncertain significance not provided no assertion criteria provided clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002225088 SCV002503865 likely pathogenic Tip-toe gait no assertion criteria provided clinical testing

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