ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31429_31430insTTA (p.Pro10477delinsLeuThr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282937 SCV002570986 uncertain significance not specified 2022-07-19 criteria provided, single submitter clinical testing Variant summary: TTN c.27697_27698insTTA (p.Pro9233delinsLeuThr) results in an in-frame deletion-insertion that is predicted to delete one amino acid from the protein and insert two new amino acids. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 244190 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.27697_27698insTTA in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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