ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp)

gnomAD frequency: 0.00001  dbSNP: rs749409444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619730 SCV000736111 uncertain significance Cardiovascular phenotype 2017-11-20 criteria provided, single submitter clinical testing The p.R14048W variant (also known as c.42142C>T), located in coding exon 151 of the TTN gene, results from a C to T substitution at nucleotide position 42142. The arginine at codon 14048 is replaced by tryptophan, an amino acid with dissimilar 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.
Eurofins Ntd Llc (ga) RCV000732966 SCV000860968 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732966 SCV002770560 uncertain significance not provided 2021-07-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732966 SCV003821113 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing

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