ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5007G>C (p.Glu1669Asp)

gnomAD frequency: 0.00001  dbSNP: rs774454385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371557 SCV001568127 uncertain significance Duchenne muscular dystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1669 of the DMD protein (p.Glu1669Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs774454385, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. 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 C35"). 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.
Natera, Inc. RCV001831303 SCV002093550 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-06-24 no assertion criteria provided clinical testing

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