ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)

dbSNP: rs1259613160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963003 SCV002232742 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1597*) in the DSP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455338). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002331531 SCV002634357 pathogenic Cardiovascular phenotype 2024-10-18 criteria provided, single submitter clinical testing The c.4789G>T (p.E1597*) alteration, located in exon 23 (coding exon 23) of the DSP gene, consists of a G to T substitution at nucleotide position 4789. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 1597. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Alterations in DSP that result in haploinsufficiency or protein truncation have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) (Fressart, 2010; Elliott, 2010; Quarta, 2011; Garcia-Pavia, 2011; Rasmussen, 2013; Pugh, 2014). Based on the available evidence, this alteration is classified as pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697174 SCV005197784 likely pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing

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