Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618969 | SCV000737281 | uncertain significance | Cardiovascular phenotype | 2017-05-30 | criteria provided, single submitter | clinical testing | The p.R20542Q variant (also known as c.61625G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61625. The arginine at codon 20542 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, glutamine is the reference amino acid in other 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. |
Labcorp Genetics |
RCV000642986 | SCV000764673 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477351 | SCV002788631 | 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 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139945 | SCV003825583 | uncertain significance | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing |