ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5234G>A (p.Arg1745His) (rs1801187)

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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 RCV000080647 SCV000112549 benign not specified 2016-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000080647 SCV000168185 benign not specified 2013-11-20 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 RCV000080647 SCV000268963 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Arg1745His in exon 37 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 48% (3209/6728) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs1801187).
PreventionGenetics,PreventionGenetics RCV000080647 SCV000309937 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251070 SCV000317485 benign Cardiovascular phenotype 2015-03-11 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000365312 SCV000482246 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080647 SCV000603335 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576346 SCV000677275 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578043 SCV000679893 benign Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080647 SCV001362904 benign not specified 2019-02-18 criteria provided, single submitter clinical testing Variant summary: DMD c.5234G>A (p.Arg1745His) 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 damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.51 in 199355 control chromosomes, suggesting that it is the major allele and therefore 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.

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