ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)

gnomAD frequency: 0.00001  dbSNP: rs752107739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499942 SCV000597704 uncertain significance not specified 2016-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139708 SCV003822865 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000499942 SCV004038452 uncertain significance not specified 2023-08-08 criteria provided, single submitter clinical testing Variant summary: TTN c.16901A>C (p.Glu5634Ala) results in a non-conservative amino acid change located in the I-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 247616 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.16901A>C in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Both submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000499942 SCV006069892 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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