Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249199 | SCV000319188 | uncertain significance | Cardiovascular phenotype | 2013-09-18 | criteria provided, single submitter | clinical testing | The p.I26656T variant (also known as c.79967T>C) is located in coding exon 276 of the TTNgene. This alteration results from a T to C substitution at nucleotide position 79967. The isoleucine at codon 26656 is replaced by threonine, an amino acid with some similar properties. ​ ​This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6063 samples (12126 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species, with threonine as the reference amino acid in three species.In addition, this alteration is predicted to be benign by PolyPhen analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear​ |
Eurofins Ntd Llc |
RCV000343384 | SCV000345172 | uncertain significance | not provided | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000343384 | SCV003852985 | uncertain significance | not provided | 2023-03-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012) |