ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3419del (p.Asp1140fs) (rs794728140)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181363 SCV000233664 pathogenic not provided 2013-07-15 criteria provided, single submitter clinical testing Although the c.3419delA mutation in the DSP gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Aspartic acid 1140, changing it to an Alanine, and creating a premature stop codon at position 19 of the new reading frame, denoted p.Asp1140AlafsX19. 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 DSP gene have been reported in association with ARVC. In summary, c.3419delA in the DSP gene is interpreted as a disease-causing mutation.

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