ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)

dbSNP: rs794728100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523618 SCV000621056 likely pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing Identified as a secondary finding by exome sequencing in published literature (Carruth et al., 2019) in an individual who did not have ARVC Reported as 85_86insATTC due to the use of alternate nomenclature; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31638835)

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