ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) (rs397516712)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037320 SCV000060977 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2012-03-20 criteria provided, single submitter clinical testing The Ser314X variant has not been reported in the literature but has been previou sly identified in one individual with ARVC by our laboratory. This nonsense vari ant leads to a premature termination codon at position 324, which is predicted t o lead to a truncated or absent protein. In summary, this variant is likely to b e pathogenic, though segregation studies and functional analyses are required to fully establish the pathogenicity of this variant.

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