ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)

dbSNP: rs753636173
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193446 SCV000249284 uncertain significance not specified 2014-11-19 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000193446 SCV000257870 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485295 SCV002794439 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137777 SCV003820266 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165439 SCV003860977 uncertain significance Cardiovascular phenotype 2022-12-09 criteria provided, single submitter clinical testing The c.60424_60426delGAA variant (also known as p.E20142del) is located in coding exon 155 of the TTN gene. This variant results from an in-frame GAA deletion at nucleotide positions 60424 to 60426. This results in the in-frame deletion of a glutamic acid at codon 20142. 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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