ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.115-5C>G (rs753196985)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552087 SCV000623795 uncertain significance Hypertrophic cardiomyopathy 2017-06-10 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the TPM1 gene. It does not directly change the encoded amino acid sequence of the TPM1 protein. This variant is present in population databases (rs753196985, ExAC 0.01%). This variant has not been reported in the literature in an individual with TPM1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on TPM1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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