ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.108+4G>T (rs878853954)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229820 SCV000284650 uncertain significance Hypertrophic cardiomyopathy 2016-01-01 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the TNNI3 mRNA. It does not directly change the encoded amino acid sequence of the TNNI3 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TNNI3-related disease. This intronic change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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