ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.845C>A (p.Ser282Tyr) (rs876658029)

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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 RCV000213732 SCV000272531 uncertain significance not specified 2017-06-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ser275Tyr variant in TNNT2 has been identified by our laboratory in one individual with i nfant onset LV dysfunction and segregated with disease in two siblings with DCM. It was absent from large population studies. This variant was predicted to be p athogenic using a computational tool clinically validated by our laboratory. Thi s tool's pathogenic prediction is estimated to be correct 94% of the time (Jorda n 2011). In summary, while there is some suspicion for a pathogenic role, the cl inical significance of the p.Ser275Tyr variant is uncertain.

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