ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) (rs794728083)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181208 SCV000233486 pathogenic not provided 2014-05-28 criteria provided, single submitter clinical testing p.Gln257Stop (CAA>TAA): c.769 C>T in exon 7 of the DSG2 gene (NM_001943.3). The Q257X mutation in the DSG2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Q257X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the DSG2 gene have been reported in association with ARVC. In summary, Q257X in the DSG2 gene is interpreted as a disease-causing mutation. The variant is found in ARVC panel(s).

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