Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156615 | SCV000206336 | uncertain significance | not specified | 2014-07-03 | criteria provided, single submitter | clinical testing | The Glu1040Gly variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, tho ugh this information is not predictive enough to determine pathogenicity. In sum mary, the clinical significance of the Glu1040Gly variant is uncertain. |
Ambry Genetics | RCV002321652 | SCV002607393 | uncertain significance | Cardiovascular phenotype | 2022-08-24 | criteria provided, single submitter | clinical testing | The p.E1040G variant (also known as c.3119A>G), located in coding exon 23 of the DSP gene, results from an A to G substitution at nucleotide position 3119. The glutamic acid at codon 1040 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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. |