ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) (rs794728097)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181249 SCV000233528 likely pathogenic not provided 2018-11-15 criteria provided, single submitter clinical testing The L772X likely pathogenic variant in the DSG2 gene has not been reported as pathogenic or benign to our knowledge. L772X is predicted to cause loss of normal protein function by protein truncation, as the last 347 amino acids are lost, and other downstream loss-of-function variants have been reported in the Human Gene Mutation Database (Stenson et al., 2014). Furthermore, the L772X variant is not observed in large population cohorts (Lek et al., 2016). Nevertheless, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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