ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25348T>C (p.Ser8450Pro)

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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 RCV005087738 SCV005726340 uncertain significance not specified 2024-11-14 criteria provided, single submitter clinical testing Variant summary: TTN c.21616T>C (p.Ser7206Pro) results in a non-conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-06 in 238724 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.21616T>C in individuals affected with TTN-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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