ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)

dbSNP: rs397516952
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Total submissions: 6
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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 RCV000038075 SCV000061741 uncertain significance not specified 2015-01-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199002 SCV001369997 uncertain significance Keratosis palmoplantaris striata 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
AiLife Diagnostics, AiLife Diagnostics RCV002223771 SCV002503157 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496608 SCV002812742 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513497 SCV003439305 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-02-14 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. Experimental studies have shown that this missense change affects DSP function (PMID: 35008956). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 44939). This missense change has been observed in individual(s) with clinical features of Carvajal syndrome (PMID: 24825141, 33232181). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2193 of the DSP protein (p.Glu2193Lys).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415320 SCV000492680 uncertain significance Cardiomyopathy; Amyloidosis 2016-01-22 no assertion criteria provided clinical testing

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