Submissions for variant NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)

dbSNP: rs1481724064

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001861031	SCV002152851	uncertain significance	Arrhythmogenic right ventricular dysplasia 11	2021-07-01	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 320 of the DSC2 protein (p.Gln320Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline.
Fulgent Genetics, Fulgent Genetics	RCV001861031	SCV002778241	uncertain significance	Arrhythmogenic right ventricular dysplasia 11	2022-02-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001730289	SCV001978470	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001730289	SCV001979049	uncertain significance	not provided		no assertion criteria provided	clinical testing