ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.612A>G (p.Arg204=)

dbSNP: rs2077190196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305419 SCV001494754 uncertain significance Duchenne muscular dystrophy 2024-06-30 criteria provided, single submitter clinical testing This sequence change affects codon 204 of the DMD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DMD protein. This variant is not present in population databases (gnomAD 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: 1008130). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV003166733 SCV003853638 uncertain significance Cardiovascular phenotype 2022-11-29 criteria provided, single submitter clinical testing The c.612A>G variant (also known as p.R204R), located in coding exon 7 of the DMD gene, results from an A to G substitution at nucleotide position 612. This nucleotide substitution does not change the arginine at codon 204. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835480 SCV002090492 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-10 no assertion criteria provided clinical testing

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