ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)

dbSNP: rs759860918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543415 SCV000642544 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328446 SCV001519585 uncertain significance not specified 2021-03-01 criteria provided, single submitter clinical testing Variant summary: TTN c.95961_95963delAGA (p.Glu31987del) 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 3.2e-05 in 249002 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.95961_95963delAGA in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001559642 SCV001781915 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002395402 SCV002673827 uncertain significance Cardiovascular phenotype 2023-02-22 criteria provided, single submitter clinical testing The c.76470_76472delAGA variant (also known as p.E25490del) is located in coding exon 185 of the TTN gene. This variant results from an in-frame AGA deletion at nucleotide positions 76470 to 76472. This results in the in-frame deletion of a glutamic acid at codon 25490. This amino acid position is highly 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.

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