ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89098_89100del (p.Glu29700del)

dbSNP: rs765495361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250601 SCV000319861 uncertain significance Cardiovascular phenotype 2022-02-15 criteria provided, single submitter clinical testing The c.61903_61905delGAA variant (also known as p.E20635del) is located in coding exon 160 of the TTN gene. This variant results from an in-frame GAA deletion at nucleotide positions 61903 to 61905. This results in the in-frame deletion of a glutamic acid at codon 20635. 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.
Revvity Omics, Revvity RCV003137864 SCV003819609 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing

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