ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8583del (p.Tyr2862fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819189 SCV000959835 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-09-26 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the DSP gene (p.Tyr2862Thrfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acids of the DSP protein and extend the protein by an additional 11 amino acids. This variant is present in population databases (rs765683790, ExAC 0.02%). This variant has not been reported in the literature in individuals with DSP-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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