Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595304 | SCV000700612 | uncertain significance | not provided | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377223 | SCV002686483 | uncertain significance | Cardiovascular phenotype | 2019-07-12 | criteria provided, single submitter | clinical testing | The p.R3084* variant (also known as c.9250C>T), located in coding exon 65 of the RYR2 gene, results from a C to T substitution at nucleotide position 9250. This changes the amino acid from an arginine to a stop codon within coding exon 65. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of RYR2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |