Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002499279 | SCV002787303 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-10-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000709722 | SCV000933247 | pathogenic | Arrhythmogenic right ventricular dysplasia 10 | 2021-05-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu171Cysfs*16) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSG2-related disease. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). For these reasons, this variant has been classified as Pathogenic. |
| Human Genome Sequencing Center Clinical Lab, |
RCV000709722 | SCV000839950 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 10 | 2017-07-31 | criteria provided, single submitter | clinical testing | This variant causes a shift in reading frame starting at leucine 171, changing it to a cysteine, and creating a premature stop codon at position 16 of the new reading frame. Loss of function could be the mechanism for DSG2 protein (PMID23911551, 23381804) also see HGMD for reported nonsense variants and frameshifting variants after Leu171. Thus, this variant has been classified as likely pathogenic. |