Submissions for variant NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV003315121	SCV004014705	likely pathogenic	Arrhythmogenic right ventricular dysplasia 10	2023-04-28	criteria provided, single submitter	clinical testing	The DSG2 c.1211C>G (p.Ser404Ter) nonsense variant is expected to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1211C>G (p.Ser404Ter) variant is classified as likely pathogenic for arrhythmogenic right ventricular cardiomyopathy.
Ambry Genetics	RCV004992588	SCV005575799	pathogenic	Cardiovascular phenotype	2024-09-30	criteria provided, single submitter	clinical testing	The c.1211C>G (p.S404*) alteration, located in exon 9 (coding exon 9) of the DSG2 gene, consists of a C to G substitution at nucleotide position 1211. This changes the amino acid from a serine (S) to a stop codon at amino acid position 404. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.