ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)

gnomAD frequency: 0.00001  dbSNP: rs564432498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727762 SCV000855145 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769991 SCV000901417 uncertain significance Cardiomyopathy 2016-10-27 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293201 SCV001434199 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002325442 SCV002610867 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.R10894C variant (also known as c.32680C>T), located in coding exon 129 of the TTN gene, results from a C to T substitution at nucleotide position 32680. The arginine at codon 10894 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of approximately 0.02% (50/244880) total alleles studied. The highest observed frequency was 0.15% (46/30764) of South Asian alleles. 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 RCV000727762 SCV003819774 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing

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