ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)

gnomAD frequency: 0.00003  dbSNP: rs771104963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536789 SCV000641981 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772098 SCV000905133 likely benign Cardiomyopathy 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448706 SCV002611877 likely benign Cardiovascular phenotype 2020-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV003999237 SCV004819973 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing This is a synonymous variant that does not change the amino acid sequence of the DSG2 protein. However, computational splicing tools suggest that this variant may impact RNA splicing. 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 8/280796 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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