Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220968 | SCV000271617 | uncertain significance | not specified | 2015-05-14 | criteria provided, single submitter | clinical testing | The c.1372-3_1372-2insC variant in DES has not been previously reported in indiv iduals with cardiomyopathy, but has been identified in 3/11576 Latino chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Th is variant results in the insertion of a single nucleotide in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the c.1372-3_1372-2insC variant is uncertain. |
Eurofins Ntd Llc |
RCV000824726 | SCV000342348 | uncertain significance | not provided | 2016-06-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000824726 | SCV000568063 | likely benign | not provided | 2020-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001440302 | SCV001643208 | likely benign | Desmin-related myofibrillar myopathy | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381742 | SCV002698024 | uncertain significance | Cardiovascular phenotype | 2022-05-10 | criteria provided, single submitter | clinical testing | The c.1372-3dupC intronic variant, results from a duplication of two nucleotides at nucleotide position 1372 before intron 8 of the DES gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |