ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro)

dbSNP: rs121964860
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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 RCV000220074 SCV000272530 uncertain significance not specified 2016-01-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg205Pro variant in TNNT2 has not been previously reported in individuals with cardiomyo pathy or in large population studies. Arginine (Arg) at position 205 is highly conserved in mammals and across evolutionarily distant species and the change to proline (Pro) was predicted to be pathogenic using a computational tool clinica lly validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some sus picion for a pathogenic role, the clinical significance of the p.Arg205Pro varia nt is uncertain.
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995904 SCV001150296 likely pathogenic Dilated cardiomyopathy 1D 2019-07-26 criteria provided, single submitter clinical testing

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