Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704936 | SCV000237901 | likely benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530236 | SCV000642520 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000185086 | SCV001431985 | uncertain significance | not specified | 2020-08-31 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.94820G>A (p.Arg31607Gln) results in a conservative amino acid change located in the M-band region (cardiodb.org) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.6e-05 in 248884 control chromosomes. This frequency is lower than the estimated maximum frequency expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (5.6e-05 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.94820G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV002390481 | SCV002674001 | uncertain significance | Cardiovascular phenotype | 2019-01-21 | criteria provided, single submitter | clinical testing | The p.R25110Q variant (also known as c.75329G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 75329. The arginine at codon 25110 is replaced by glutamine, an amino acid with highly similar properties. 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, |
RCV001704936 | SCV003824762 | uncertain significance | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing |