Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227516 | SCV000286670 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000604965 | SCV000732045 | uncertain significance | not specified | 2017-12-15 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg12428His v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 4/110732 of European chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs762128685). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools a nd conservation analysis suggest that this variant may not impact the protein, t hough this information is not predictive enough to rule out pathogenicity. In su mmary, while the clinical significance of the p.Arg12428His variant is uncertain , these data suggest that it is more likely to be benign. ACMG/AMP Criteria appl ied: PM2; BP4. |
Eurofins Ntd Llc |
RCV000733705 | SCV000861798 | uncertain significance | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733705 | SCV001793274 | likely benign | not provided | 2020-10-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
Ambry Genetics | RCV002399818 | SCV002713950 | uncertain significance | Cardiovascular phenotype | 2019-11-21 | criteria provided, single submitter | clinical testing | The p.R5931H variant (also known as c.17792G>A), located in coding exon 71 of the TTN gene, results from a G to A substitution at nucleotide position 17792. The arginine at codon 5931 is replaced by histidine, an amino acid with highly similar 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, |
RCV000733705 | SCV003821803 | uncertain significance | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing |