Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617322 | SCV000735998 | uncertain significance | Cardiovascular phenotype | 2017-08-24 | criteria provided, single submitter | clinical testing | The p.N2177I variant (also known as c.6530A>T), located in coding exon 42 of the RYR2 gene, results from an A to T substitution at nucleotide position 6530. The asparagine at codon 2177 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available 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. |