ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs)

dbSNP: rs2113705210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926933 SCV002202627 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-11-23 criteria provided, single submitter clinical testing 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. This frameshift has been observed in individual(s) with clinical features of arrhythmogenic cardiomyopathy (PMID: 31317183). This sequence change results in a frameshift in the DSP gene (p.Gly2824Alafs*53). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the DSP protein and extend the protein by 4 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency).

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