ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys)

dbSNP: rs895744220
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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) RCV000727851 SCV000855314 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325443 SCV002628996 uncertain significance Cardiovascular phenotype 2020-03-09 criteria provided, single submitter clinical testing The p.E13648K variant (also known as c.40942G>A), located in coding exon 147 of the TTN gene, results from a G to A substitution at nucleotide position 40942. The glutamic acid at codon 13648 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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