Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001360576 | SCV001556501 | uncertain significance | Desmin-related myofibrillar myopathy | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298568 | SCV004004398 | uncertain significance | Cardiovascular phenotype | 2023-04-28 | criteria provided, single submitter | clinical testing | The p.G39S variant (also known as c.115G>A), located in coding exon 1 of the DES gene, results from a G to A substitution at nucleotide position 115. The glycine at codon 39 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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. |