ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) (rs148894066)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218217 SCV000271216 likely pathogenic Primary dilated cardiomyopathy 2015-02-19 criteria provided, single submitter clinical testing The p.Tyr1169X variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 1169, which is predicted to lead to a truncated or absent protein. Frameshift and nonsense variants in DSP have been well reported in patients with ARVC (http://arvcdatabase.info/), but recent evid ence supports that they can also cause DCM (Pugh 2014). In summary, although add itional studies are required to fully establish its clinical significance, the p .Tyr1169X variant is likely pathogenic.

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