ClinVar Miner

Submissions for variant NM_004006.2(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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755510 SCV000603339 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246678 SCV000317951 benign Cardiovascular phenotype 2015-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000576524 SCV000677273 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000381508 SCV000482275 likely benign Dilated cardiomyopathy 3B 2016-06-14 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.
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 (http://evs.gs.washington.edu/E VS/; dbSNP rs5927083).
Phosphorus, Inc. RCV000577964 SCV000679892 benign Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080462 SCV000309923 benign not specified criteria provided, single submitter clinical testing

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