Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597169 | SCV000703736 | uncertain significance | not provided | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000642885 | SCV000764572 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597169 | SCV002003855 | uncertain significance | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002331013 | SCV002634126 | uncertain significance | Cardiovascular phenotype | 2018-08-15 | criteria provided, single submitter | clinical testing | The p.R14835Q variant (also known as c.44504G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 44504. The arginine at codon 14835 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
New York Genome Center | RCV002467916 | SCV002764469 | uncertain significance | Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 | 2021-12-10 | criteria provided, single submitter | clinical testing | The c.71699G>A (p.Arg23900Gln) variant identified in the TTN gene substitutes a well conserved Arginine for Glutamine at amino acid 23900/35992(coding exon 326/364) in transcript NM_001267550. This variant is found with low frequency in gnomAD(v3.1.2)(8 heterozygotes, 0 homozygotes; allele frequency:5.26e-5) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT;score:0.00) and Pathogenic (REVEL; score:0.6119) to the function of the canonical transcript. This variant is reported as a Variant of Uncertain Significance in ClinVar(VarID:498625), and to our current knowledge has not been reported in an affected individual in the literature. The p.Arg23900 residue is within the A-Band of TTN (http://cardiodb.org/titin/). Given the lack of compelling evidence for its pathogenicity, the c.71699G>A (p.Arg23900Gln) variant identified in the TTN gene is reported as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV000597169 | SCV003827916 | uncertain significance | not provided | 2022-08-18 | criteria provided, single submitter | clinical testing |