ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1635A>G (p.Arg545=) (rs5927083)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080462 SCV000112364 benign not specified 2015-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000080462 SCV000168167 benign not specified 2014-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080462 SCV000268945 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Arg545Arg in exon 14 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 15% (586/3833) of African American c hromosomes by the NHLBI Exome Sequencing Project ( VS/; dbSNP rs5927083).
PreventionGenetics,PreventionGenetics RCV000080462 SCV000309923 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246678 SCV000317951 benign Cardiovascular phenotype 2015-06-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000381508 SCV000482275 benign Dilated cardiomyopathy 3B 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080462 SCV000603339 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576524 SCV000677273 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577964 SCV000679892 benign Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080462 SCV000919263 benign not specified 2018-07-12 criteria provided, single submitter clinical testing Variant summary: DMD c.1635A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.11 in 198892 control chromosomes in the gnomAD database, including 879 homozygotes and 8224 hemizygotes. The observed variant frequency is approximately 10-fold above the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophiopathies phenotype (0.011), strongly suggesting that the variant is benign. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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