ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) (rs794728098)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181250 SCV000233529 pathogenic not provided 2014-10-30 criteria provided, single submitter clinical testing At least 12% of patients with ARVC have been reported to have a mutation in the DSG2 gene (McNally E et al., 2009). Although the c.2372_2373delCA mutation in the DSG2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Threonine 791, changing it to a Serine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Thr791SerfsX14. Other frameshift mutations in the DSG2 gene have been reported in association with ARVC

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