ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) (rs1064793890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000498019 SCV000579559 uncertain significance Hypertrophic cardiomyopathy 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV000803186 SCV000943048 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 2672 of the DSP protein (p.Gln2672Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 427967). 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: "Benign"; Align-GVGD: "Class C25"). 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.

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