Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150571 | SCV000197826 | uncertain significance | not specified | 2014-07-03 | criteria provided, single submitter | clinical testing | The Glu1575Lys variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Glu1575Lys varian t is uncertain. |
Ambry Genetics | RCV002336297 | SCV002637727 | uncertain significance | Cardiovascular phenotype | 2021-04-16 | criteria provided, single submitter | clinical testing | The p.E1575K variant (also known as c.4723G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4723. The glutamic acid at codon 1575 is replaced by lysine, 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. |