ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) (rs794728091)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181238 SCV000233517 pathogenic not provided 2013-10-31 criteria provided, single submitter clinical testing Although the c.464_465insT pathogenic variant in the DSG2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glutamic acid 156, changing it to an Arginine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Glu156ArgfsX14. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift varaints in the DSG2 gene have been reported in HGMD in association with ARVC (Stenson P et al., 2009). In summary, c.464_465insT in the DSG2 gene is interpreted as a pathogenic variant.
Invitae RCV000799959 SCV000939651 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu156Argfs*14) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with arrythmogenic right ventricular cardiomyopathy (PMID: 25616645). ClinVar contains an entry for this variant (Variation ID: 199822). Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). For these reasons, this variant has been classified as Pathogenic.

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