ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)

gnomAD frequency: 0.00003  dbSNP: rs371807358
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000993519 SCV000721335 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Ambry Genetics RCV000619886 SCV000736526 uncertain significance Cardiovascular phenotype 2017-06-20 criteria provided, single submitter clinical testing The p.R23746C variant (also known as c.71236C>T), located in coding exon 179 of the TTN gene, results from a C to T substitution at nucleotide position 71236. The arginine at codon 23746 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is 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.
Athena Diagnostics Inc RCV000993519 SCV001146556 uncertain significance not provided 2018-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000993519 SCV001807971 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000993519 SCV001957944 uncertain significance not provided no assertion criteria provided clinical testing

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