ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3426dup (p.Gln1143fs)

dbSNP: rs794728141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181364 SCV000233665 pathogenic not provided 2013-03-05 criteria provided, single submitter clinical testing Although the c.3426dupG pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glutamine 1143, changing it to a Alanine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Gln1143AlafsX7. 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 DSP gene have been reported in association with ARVC.

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