Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172327 | SCV000051170 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000610466 | SCV000712386 | uncertain significance | not specified | 2016-07-18 | criteria provided, single submitter | clinical testing | The p.Arg12515Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9790 African and 2/66508 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs199834143). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg12515Trp variant is uncertain. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770033 | SCV000901459 | uncertain significance | Cardiomyopathy | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172327 | SCV001781624 | likely benign | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
Ambry Genetics | RCV002408749 | SCV002717343 | uncertain significance | Cardiovascular phenotype | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.R6018W variant (also known as c.18052C>T), located in coding exon 72 of the TTN gene, results from a C to T substitution at nucleotide position 18052. The arginine at codon 6018 is replaced by tryptophan, an amino acid with 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. |
Revvity Omics, |
RCV000172327 | SCV003827301 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003416063 | SCV004117708 | uncertain significance | TTN-related condition | 2023-07-27 | criteria provided, single submitter | clinical testing | The TTN c.45247C>T variant is predicted to result in the amino acid substitution p.Arg15083Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179486304-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |