ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_Gly447insValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspLysPheAspValSerPheGlyArgGluGlyGluThrMetSerLeuGlyCysArgValValIleThrProGluIleLysHisPheGlnProGluIleGlnTrpTyrArgAsnValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspL...(Total 360))

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221083 SCV000272161 uncertain significance not specified 2015-11-02 criteria provided, single submitter clinical testing The c.(?_1175)_(1339_?)(3) variant in MYOM1 results in three copies of exon 9. This variant has not been previously reported in individuals with cardiomyopathy and data from large population studies is insufficient to assess its frequency in the general population. The impact on the protein cannot be predicted with ce rtainty without additional studies. In addition, the spectrum of pathogenic vari ants of MYOM1 is currently not well understood. In summary, the clinical signifi cance of this variant is uncertain.

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