ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu)

gnomAD frequency: 0.00002  dbSNP: rs794727766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179179 SCV000231385 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000179179 SCV001433372 uncertain significance not provided 2019-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852229 SCV002276953 uncertain significance Duchenne muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 2792 of the DMD protein (p.Lys2792Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine 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 affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 197991). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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