ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) (rs1194358112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703375 SCV000832272 likely pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-11-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSP gene (p.Gly2414*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 458 amino acids of the DSP protein. 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. The observation of one or more missense substitutions downstream of this variant (p.Arg2639Trp, p.Thr2595Ile and p.Ala2655Asp) in affected individuals suggests that this may be a clinically significant region of the DSP protein (PMID: 20400443, 19597050, 19924139). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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