ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.39G>A (p.Glu13=) (rs727503516)

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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 RCV000152110 SCV000200784 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu13Glu varian t in TNNT2 has not been previously reported in individuals with cardiomyopathy o r in large population studies. This variant is located in the last three bases o f the exon, which is part of the 5? splice region. Computational tools do not su ggest an impact to splicing; however, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the Gl u13Glu variant is uncertain, the variant does not alter the amino acid residue a nd is more likely benign.

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