ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2026G>A (p.Asp676Asn)

gnomAD frequency: 0.00001  dbSNP: rs2073274764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805443 SCV002052965 uncertain significance Cardiomyopathy 2022-12-02 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 676 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 32659924). This variant has not been identified 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.
All of Us Research Program, National Institutes of Health RCV004009134 SCV004821745 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 676 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 32659924). This variant has not been identified 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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