ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72526G>C (p.Glu24176Gln)

dbSNP: rs1553609326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619309 SCV000736766 uncertain significance Cardiovascular phenotype 2017-02-17 criteria provided, single submitter clinical testing The p.E15111Q variant (also known as c.45331G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 45331. The glutamic acid at codon 15111 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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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