ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.618_625del (p.Tyr207fs) (rs1598811348)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008309 SCV001168077 likely pathogenic not provided 2018-08-21 criteria provided, single submitter clinical testing Although the c.618_625delTTATCCTC 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 tyrosine 207, changing it to a serine, and creating a premature stop codon at position 6 of the new reading frame, denoted p.Tyr207SerfsX6. This likely pathogenic 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 Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.618_625delTTATCCTC variant has not been observed in large population cohorts (Lek et al., 2016). In summary, c.618_625delTTATCCTC in the DSG2 gene is interpreted as a likely pathogenic variant.

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