ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) (rs1064793983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486822 SCV000567513 pathogenic not provided 2015-08-05 criteria provided, single submitter clinical testing The Y783X variant in the DSG2 gene has not been published as a pathogenic variant or as a benign variant toour knowledge. However, this variant has previously been identified in the homozygous state in one individualout of a cohort of 400 patients (van der Zwaag et al., 2009); clinical information was not provided. Thispathogenic variant is predicted to result in the loss of 336 amino acids from the C-terminus and to cause lossof normal protein function by protein truncation. Other downstream nonsense variants in the DSG2 gene havebeen reported in HGMD in association with ARVC (Stenson et al., 2014). Furthermore, the Y783X variantwas not observed in approximately 5,900 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, Y783X in the DSG2 gene is interpreted as a pathogenic variant.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170379 SCV001332954 likely pathogenic Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000486822 SCV001446967 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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