ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101479C>T (p.Arg33827Cys)

gnomAD frequency: 0.00003  dbSNP: rs372067498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728299 SCV000855852 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
New York Genome Center RCV000728299 SCV002099068 uncertain significance not provided 2021-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386291 SCV002671308 uncertain significance Cardiovascular phenotype 2019-06-27 criteria provided, single submitter clinical testing The p.R24762C variant (also known as c.74284C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 74284. The arginine at codon 24762 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.

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