ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1883del (p.Gly628fs)

dbSNP: rs1060500613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468365 SCV000543248 pathogenic Arrhythmogenic right ventricular dysplasia 8 2017-04-10 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 14 of the DSP mRNA (c.1883delG), causing a frameshift at codon 628. This creates a premature translational stop signal (p.Gly628Alafs*8) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001388773 SCV001589904 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2017-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). This sequence change deletes 1 nucleotide from exon 14 of the DSP mRNA (c.1883delG), causing a frameshift at codon 628. This creates a premature translational stop signal (p.Gly628Alafs*8) and is expected to result in an absent or disrupted protein product.

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