ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8156del (p.Pro2719fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799531 SCV000939199 likely pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-12-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSP gene (p.Pro2719Argfs*27). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 153 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 conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the DSP protein. Other variant(s) that disrupt this region (p.Gln2730Serfs*16,  p.Thr2733Serfs*14, and insA2765fsX2787) have been observed in individuals with DSP-related conditions (PMID: 28527814, 21859740). This suggests that this may be a clinically significant region of the protein. 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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