ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)

dbSNP: rs754953607
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Total submissions: 5
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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 RCV001328437 SCV001519566 uncertain significance not specified 2021-03-15 criteria provided, single submitter clinical testing Variant summary: TTN c.83909_83911delTTA (p.Ile27970del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 2.4e-05 in 248394 control chromosomes (gnomAD). 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.83909_83911delTTA 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.
GeneDx RCV001577446 SCV001804823 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368109 SCV002656786 uncertain significance Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing The c.64418_64420delTTA variant (also known as p.I21473del) is located in coding exon 164 of the TTN gene. This variant results from an in-frame TTA deletion at nucleotide positions 64418 to 64420. This results in the in-frame deletion of an isoleucine at codon 21473. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV001577446 SCV001918681 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001577446 SCV001952797 uncertain significance not provided no assertion criteria provided clinical testing

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