ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1648C>T (p.Arg550Cys)

gnomAD frequency: 0.00001  dbSNP: rs778354538
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238917 SCV001411751 uncertain significance Duchenne muscular dystrophy 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 550 of the DMD protein (p.Arg550Cys). This variant is present in population databases (rs778354538, gnomAD 0.008%). 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: 964654). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DMD protein function. 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 RCV001597256 SCV001831848 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 964654; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002504338 SCV002816768 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-09-14 criteria provided, single submitter clinical testing
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330098 SCV004037231 uncertain significance Becker muscular dystrophy 2020-03-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828906 SCV002090340 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-26 no assertion criteria provided clinical testing

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