ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys)

dbSNP: rs794727382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176402 SCV000228053 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001316859 SCV001507499 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1730 of the DSP protein (p.Glu1730Lys). 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: 195755). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV000176402 SCV005376583 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
All of Us Research Program, National Institutes of Health RCV004806165 SCV005428974 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-03-05 criteria provided, single submitter clinical testing

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