ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) (rs41305353)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080810 SCV000112712 benign not specified 2014-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000080810 SCV000168145 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080810 SCV000268974 benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Glu2910Val in exon 59 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 7.3% (768/10496) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs41305353).
PreventionGenetics,PreventionGenetics RCV000080810 SCV000309947 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247958 SCV000318157 benign Cardiovascular phenotype 2015-10-23 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 RCV000322171 SCV000482225 likely benign Dilated cardiomyopathy 3B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000012018 SCV000560825 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080810 SCV000603356 benign not specified 2018-08-06 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000012018 SCV000679895 benign Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711469 SCV000841837 benign not provided 2017-09-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080810 SCV001360765 benign not specified 2019-03-07 criteria provided, single submitter clinical testing Variant summary: DMD c.8729A>T (p.Glu2910Val) results in a non-conservative amino acid change located in a spectrin/alpha-actinin 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 0.021 in 199997 control chromosomes in the gnomAD database, including 53 homozygotes and 1379 hemizygotes. The observed variant frequency is significantly higher than expected for a pathogenic variant in DMD causing Dystrophinopathies phenotype, strongly suggesting that the variant is benign. Seven ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as benign (6x) and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
OMIM RCV000012018 SCV000032252 uncertain significance Duchenne muscular dystrophy 1994-09-01 no assertion criteria provided literature only

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