ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) (rs1464253797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498154 SCV000589696 likely pathogenic not provided 2016-06-08 criteria provided, single submitter clinical testing The novel Y2547X variant in the DSP gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. Y2547X is predicted to cause loss of normal protein function by protein truncation. Other downstream nonsense variants in the DSP gene have been reported in HGMD in association with DSP-related disorders (Stenson et al., 2014). Furthermore, the Y2547X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, Y2547X in the DSP gene is expected to be pathogenic

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