ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1015-2A>C

dbSNP: rs2144332473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001724718 SCV001949901 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2020-10-30 criteria provided, single submitter clinical testing The variant c.1015-2A>C in the DSG2 gene affects the acceptor splice site of intron 8 and is therefore highly likely to impact the splicing process by causing the exclusion of the following exons from the mature transcript and the translation of an aberrant protein or a shift in the reading frame. This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. According to Human Splicing Finder (HSF 3.0) the variant most probably affects splicing breaking the WT acceptor site but can potentially alter splicing also by activating a new cryptic acceptor splice site.

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