ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2032C>G (p.Gln678Glu)

gnomAD frequency: 0.00001  dbSNP: rs398123872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004025262 SCV000740786 uncertain significance Cardiovascular phenotype 2023-05-10 criteria provided, single submitter clinical testing The p.Q678E variant (also known as c.2032C>G), located in coding exon 17 of the DMD gene, results from a C to G substitution at nucleotide position 2032. The glutamine at codon 678 is replaced by glutamic acid, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0011% (2/183114) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0052% (1/19066) of South Asian alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855292 SCV002167727 uncertain significance Duchenne muscular dystrophy 2024-03-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 678 of the DMD protein (p.Gln678Glu). This variant is present in population databases (rs398123872, gnomAD 0.005%). 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: 520605). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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. RCV001834973 SCV002092199 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-08-28 no assertion criteria provided clinical testing

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