ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2631= (p.Arg877=)

gnomAD frequency: 0.25397  dbSNP: rs1016835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154390 SCV000204056 benign not specified 2010-07-23 criteria provided, single submitter clinical testing Arg877Arg in exon 19 of the DSP gene: This variant changes the first base of the exon, which is part of the splicing consensus and therefore potentially causes abnormal splicing. However, due to the variant's high frequency in the general p opulation (MAF=22.5%; dbSNP ID= rs1016835) we believe that it is more likely ben ign.

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