Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704927 | SCV000237743 | uncertain significance | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; 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. |
Ambry Genetics | RCV000244803 | SCV000318769 | uncertain significance | Cardiovascular phenotype | 2015-10-20 | criteria provided, single submitter | clinical testing | The p.R27868Q variant (also known as c.83603G>A), located in coding exon 284 of the TTN gene, results from a G to A substitution at nucleotide position 83603. The arginine at codon 27868 is replaced by glutamine, an amino acid with some highly similar properties. This variant was previously reported in theSNPDatabaseasrs770081431.Based on data fromExAC, the A allele was reported in 2 of 120516 total alleles (ExomeAggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed October20, 2015]). This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP)and 1000 Genomes Project. In the ESP, this variant was not observed in 6058 samples (12116 alleles) with coverage at this position. 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 variant remains unclear. |
Fulgent Genetics, |
RCV002485253 | SCV002784654 | 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 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001704927 | SCV003821153 | uncertain significance | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing |