ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.563+266C>T (rs201813515)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172141 SCV000051080 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172141 SCV000620525 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in an alternate transcript of the TPM1 gene. The R191X variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). R191X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, loss of function is not a known mechanism of disease for the TPM1 gene. Furthermore, no nonsense variants in this transcript of the TPM1 gene have been reported in Human Gene Mutation Database (Stenson et al., 2014).
Color RCV001190503 SCV001358006 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing

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