ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.91del (p.Thr31fs) (rs758282201)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480668 SCV000572223 likely pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing Although the c.91delA likely pathogenic variant in the DSG2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Threonine 31, changing it to a Glutamine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Thr31GlnfsX14. 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 variants in the DSG2 gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the c.91delA variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.91delA in the DSG2 gene is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype.

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