ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6398dup (p.Val2134fs) (rs794728147)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181370 SCV000233671 pathogenic not provided 2013-07-11 criteria provided, single submitter clinical testing Although the c.6398dupG mutation in the DSP gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Valine 2134, changing it to a Cysteine, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Val2134CysfsX22. This mutation is expected to result in an abnormal, truncated protein product. Other frameshift mutations in the DSP gene have been reported in association with ARVC. The variant is found in ARVC panel(s).

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