ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.355C>T (p.His119Tyr) (rs397516460)

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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 RCV000036580 SCV000060235 uncertain significance not specified 2015-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.His109Tyr variant in TNNT2 has not been previously reported in individuals with cardiomyo pathy or in large population studies; however, the c.324_325delinsGT variant pro ducing the same amino acid change (p.His109Tyr) has been identified by our labor atory in 1 Caucasian individual with adolescent-onset DCM. Histidine (His) at po sition 109 is highly conserved in mammals and across evolutionarily distant spec ies and the change to tyrosine (Tyr) was predicted to be pathogenic using a comp utational tool clinically validated by our laboratory. This tool's pathogenic pr ediction is estimated to be correct 94% of the time (Jordan 2011). In summary, w hile there is some suspicion for a pathogenic role, the clinical significance of the p.His109Tyr variant is uncertain.

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