ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.344_345dup (p.Asp116fs)

dbSNP: rs1581792832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008996 SCV001168805 likely pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing The c.344_345dupAT variant in the DSP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.344_345dupAT variant causes a frameshift starting with codon Aspartic acid 116, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Asp116MetfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.344_345dupAT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.344_345dupAT as a likely pathogenic variant.

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