ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.690+1G>A

gnomAD frequency: 0.00001  dbSNP: rs750176752
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473344 SCV000551021 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-01-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 410373). Disruption of this splice site has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 30790397). This variant is present in population databases (rs750176752, gnomAD 0.006%). This sequence change affects a donor splice site in intron 6 of the DSG2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562).

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