ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) (rs1561703331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760791 SCV000890686 likely pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The K2356X variant in the DSP gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function by protein truncation. Other nonsense variants in the DSP gene have been reported in Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014). Furthermore, the K2356X variant is not observed in large population cohorts (Lek et al., 2016). In summary, K2356X in the DSP gene is interpreted as a likely pathogenic variant.

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