ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) (rs1554108050)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578715 SCV000681337 pathogenic not provided 2018-01-05 criteria provided, single submitter clinical testing The E1081X variant in the DSP gene has not been reported as a pathogenic or benign to our knowledge. E1081X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Numerous other truncating variants in the DSP gene have been reported in the Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the E1081X variant is not observed in large population cohorts (Lek et al., 2016).
Invitae RCV000689303 SCV000816946 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1081*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 489339). Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). For these reasons, this variant has been classified as Pathogenic.

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