ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.211_217delinsGGGGGGATCGTCC (p.Thr71_Ala73delinsGlyGlyIleValPro)

dbSNP: rs1554045286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593519 SCV000707113 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686593 SCV005173473 uncertain significance Cardiovascular phenotype 2024-04-11 criteria provided, single submitter clinical testing The c.211_217delACTAAAGins13 variant (also known as p.T71_A73delinsGGIVP), located in coding exon 2 of the TTN gene, results from an in-frame deletion of ACTAAAG and insertion of GGGGGGATCGTCC at nucleotide positions 211 to 217. This results in the substitution of the threonine, lysine, and alanine residues at codons 71 to 73 for glycine, glycine, isoleucine, valine, and proline residues. This amino acid region 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.

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