ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.82-3T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001182847 SCV001348443 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Invitae RCV001212706 SCV001384299 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-08-08 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs370099811, ExAC 0.01%). This variant has not been reported in the literature in individuals with DSG2-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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