Submissions for variant NM_001943.5(DSG2):c.882dup (p.Val295fs)

dbSNP: rs1187924885

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852472	SCV000995166	likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy	2017-02-02	criteria provided, single submitter	clinical testing
Invitae	RCV001858508	SCV002151987	pathogenic	Arrhythmogenic right ventricular dysplasia 10	2024-01-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val295Serfs*6) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 20400443, 30790397). This variant is also known as c.882_883insA. ClinVar contains an entry for this variant (Variation ID: 691669). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002501181	SCV002809385	pathogenic	Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB	2022-05-03	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV001858508	SCV004183382	likely pathogenic	Arrhythmogenic right ventricular dysplasia 10	2020-12-16	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1, PM2