ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.487G>A (p.Ala163Thr) (rs727505030)

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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 RCV000156456 SCV000206175 uncertain significance not specified 2014-03-13 criteria provided, single submitter clinical testing The Ala153Thr variant in TNNT2 has not been previously reported in individuals w ith cardiomyopathy. Data from large population studies are insufficient to asses s the frequency of this variant. Alanine (Ala) at position 153 is conserved in m ammals though not in evolutionarily distant species. The change to threonine (Th r) was predicted to be pathogenic using a computational tool clinically validate d by our laboratory. This tool's pathogenic prediction is estimated to be correc t 94% of the time (Jordan 2011). In summary, additional information is needed to fully assess the clinical significance of this variant.

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