ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) (rs794728100)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523618 SCV000621056 likely pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing The c.86_87delTAins24 likely pathogenic variant in the DSG2 gene has not been reported as pathogenic or benign to our knowledge. This variant causes a shift in reading frame starting at codon leucine 29, changing it to a tyrosine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Leu29TyrfsX9. The c.86_87delTAins24 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 downstream frameshift variants in the DSG2 gene have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Furthermore, the c.86_87delTAins24 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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