ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8762A>G (p.His2921Arg) (rs1800279)

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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 RCV000080812 SCV000112714 benign not specified 2015-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000080812 SCV000168147 benign not specified 2014-03-10 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 RCV000080812 SCV000268976 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.His2921Arg in exon 59 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 3% (200/6728) of European American chromosomes by the NHLBI Exome Sequencing Project ( EVS/; dbSNP rs1800279).
PreventionGenetics,PreventionGenetics RCV000080812 SCV000309949 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242837 SCV000318282 benign Cardiovascular phenotype 2015-09-23 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 RCV000355558 SCV000482223 benign Dilated cardiomyopathy 3B 2018-01-13 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.
Invitae RCV000458193 SCV000560811 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080812 SCV000603333 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080812 SCV001364029 benign not specified 2019-02-18 criteria provided, single submitter clinical testing Variant summary: DMD c.8762A>G (p.His2921Arg) results in a non-conservative amino acid change located in a spectrin repeat (IPR018159) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.026 in 200041 control chromosomes in the gnomAD database, including 42 homozygotes and 1923 hemizygotes. These data strongly suggest that the variant is benign. Six ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as benign (5x) and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
OMIM RCV000012020 SCV000032254 uncertain significance Becker muscular dystrophy 1994-09-01 no assertion criteria provided literature only

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