ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.837G>A (p.Thr279=) (rs1800265)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000080798 SCV000603336 benign not specified 2016-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242257 SCV000317821 benign Cardiovascular phenotype 2015-06-26 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 RCV000576553 SCV000677279 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080798 SCV000112700 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000080798 SCV000168164 benign not specified 2014-01-17 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 RCV000292926 SCV000482279 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080798 SCV000919265 benign not specified 2018-07-19 criteria provided, single submitter clinical testing Variant summary: DMD c.837G>A results in a synonymous change. The variant allele was found at a frequency of 0.087 in 40353 control chromosomes, predominantly at a frequency of 0.52 within the African or African-American subpopulation in the ExAC database, including 620 homozygotes. The observed variant frequency within African or African-American control individuals in the ExAC database is approximately 46.51 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophiopathies phenotype (0.011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.837G>A in individuals affected with Dystrophiopathies and no experimental evidence demonstrating its impact on protein function have been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories 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 RCV000080798 SCV000268973 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr279Thr in exon 09 of DMD: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 48% (1838/3833) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.g; dbSNP rs1800265).
PreventionGenetics RCV000080798 SCV000309946 benign not specified criteria provided, single submitter clinical testing

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