Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181281 | SCV000233571 | likely pathogenic | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to destroy the splice acceptor site of intron 9 result in adjacent exon 10 being in-frame; Has not been previously published as pathogenic or benign to our knowledge |
Petrovsky National Research Centre of Surgery, |
RCV002286571 | SCV002576373 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2022-09-27 | criteria provided, single submitter | clinical testing | We observed a heterozygous c.1141-2A>G genetic variant in the DSP gene in a 34-y.o. proband, diagnosed with arrhythmogenic right ventricular cardiomyopathy. This variant is not present in LOVD database, not observed at significant frequency in large population cohorts (gnomAD v2.1.1). In silico resources classify the c.1141-2A>G variant as probably pathogenic. It is predicted to disrupt canonical splice site in mRNA. ClinVar contains an entry for this variant (Variation ID: 199856). Loss-of-function variants in the DSP gene are known to be pathogenic (PMID: 27532257, 35474678, 35151254, 34343150). We assume that this variant could be classified as Likely Pathogenic. |