ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg)

gnomAD frequency: 0.00001  dbSNP: rs1269389543
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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 RCV000620311 SCV000736071 uncertain significance Cardiovascular phenotype 2017-10-19 criteria provided, single submitter clinical testing The p.G8591R variant (also known as c.25771G>A), located in coding exon 103 of the TTN gene, results from a G to A substitution at nucleotide position 25771. The glycine at codon 8591 is replaced by arginine, an amino acid with dissimilar 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724095 SCV001951149 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724095 SCV001975464 uncertain significance not provided no assertion criteria provided clinical testing

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