ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.601_605del (p.Val201fs) (rs794728092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181239 SCV000233518 pathogenic not provided 2013-05-17 criteria provided, single submitter clinical testing Although the c.601_605delGTATC mutation in the DSG2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Valine 201, changing it to a Serine, and creating a premature stop codon at position 13 of the new reading frame, denoted p.Val201SerfsX13. This mutation 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 mutations in the DSG2 gene have been reported in association with ARVC. In summary, c.601_605delGTATC in the DSG2 gene is interpreted as a disease-causing mutation.

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