ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)

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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 RCV002365148 SCV002664031 uncertain significance Cardiovascular phenotype 2019-06-26 criteria provided, single submitter clinical testing The p.E23620G variant (also known as c.70859A>G), located in coding exon 178 of the TTN gene, results from an A to G substitution at nucleotide position 70859. The glutamic acid at codon 23620 is replaced by glycine, 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.
Revvity Omics, Revvity RCV003138223 SCV003819683 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV003319239 SCV003932373 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing

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