Submissions for variant NM_001943.5(DSG2):c.630del (p.Phe211fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002368834	SCV002660592	pathogenic	Cardiovascular phenotype	2019-01-17	criteria provided, single submitter	clinical testing	The c.630delG pathogenic mutation, located in coding exon 6 of the DSG2 gene, results from a deletion of one nucleotide at nucleotide position 630, causing a translational frameshift with a predicted alternate stop codon (p.F211Sfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003098200	SCV003498275	pathogenic	Arrhythmogenic right ventricular dysplasia 10	2022-08-30	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe211Serfs*3) 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).