ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.573G>T (p.Met191Ile) (rs876658028)

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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 RCV000214133 SCV000272528 uncertain significance not specified 2015-02-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Met181Ile variant in TNNT2 has not been previously reported in individuals with cardiomyo pathy and was absent from large population studies. This variant was predicted t o be pathogenic using a computational tool clinically validated by our laborator y. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Met181Ile variant is uncertain.

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