ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002329947 SCV002627775 uncertain significance Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing The p.G14204E variant (also known as c.42611G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 42611. The glycine at codon 14204 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear
Revvity Omics, Revvity RCV003138185 SCV003827356 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487027 SCV004240085 likely benign Cardiomyopathy 2022-11-14 criteria provided, single submitter clinical testing

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