Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000407738 | SCV000341097 | uncertain significance | not provided | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002401996 | SCV002706518 | uncertain significance | Cardiovascular phenotype | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.G3509V variant (also known as c.10526G>T), located in coding exon 44 of the TTN gene, results from a G to T substitution at nucleotide position 10526. The glycine at codon 3509 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV002494868 | SCV002785564 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000407738 | SCV003845449 | uncertain significance | not provided | 2022-09-27 | 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 a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017) |
Prevention |
RCV004529474 | SCV004111452 | uncertain significance | TTN-related disorder | 2023-06-27 | criteria provided, single submitter | clinical testing | The TTN c.11615G>T variant is predicted to result in the amino acid substitution p.Gly3872Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179606345-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |