ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88646AGA[1] (p.Lys29550del)

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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 RCV002360399 SCV002661348 uncertain significance Cardiovascular phenotype 2021-09-09 criteria provided, single submitter clinical testing The c.61454_61456delAGA variant (also known as p.K20485del) is located in coding exon 159 of the TTN gene. This variant results from an in-frame AGA deletion at nucleotide positions 61454 to 61456. This results in the in-frame deletion of a lysine at codon 20485. This amino acid position is 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.
Revvity Omics, Revvity RCV003138212 SCV003824107 uncertain significance not provided 2019-10-27 criteria provided, single submitter clinical testing

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