ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup)

dbSNP: rs1319078257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571198 SCV001795622 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-frame duplication of six amino acids in a non-repeat region
Ambry Genetics RCV002324149 SCV002609039 uncertain significance Cardiovascular phenotype 2021-05-01 criteria provided, single submitter clinical testing The c.3143_3160dup18 variant (also known as p.E1048_P1053dup), located in coding exon 15 of the DSG2 gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 3143 to 3160. This results in the duplication of 6 extra residues (ERVLAP) between codons 1048 and 1053. This amino acid region is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003631208 SCV004548555 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-12-09 criteria provided, single submitter clinical testing This variant, c.3143_3160dup, results in the insertion of 6 amino acid(s) of the DSG2 protein (p.Glu1048_Pro1053dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1204755). 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.
All of Us Research Program, National Institutes of Health RCV004008940 SCV004841855 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing This variant causes an in-frame duplication of six amino acids in the DSG2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/249456 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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