ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) (rs754765424)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247130 SCV000319654 likely benign Cardiovascular phenotype 2019-12-05 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;In silico models in agreement (benign)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000369939 SCV000339253 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000468573 SCV000520358 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18583217)
Invitae RCV001085412 SCV000560861 benign Duchenne muscular dystrophy 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000369939 SCV000711981 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.Gln1829Glu in exon 39 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (53/6508) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754765424).
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853039 SCV000995796 benign Long QT syndrome 2018-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000468573 SCV001143752 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165782 SCV001328021 uncertain significance Dilated cardiomyopathy 3B 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286419 SCV001472984 benign none provided 2020-07-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000468573 SCV001502149 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000369939 SCV001554517 benign not specified 2021-03-21 criteria provided, single submitter clinical testing Variant summary: DMD c.5485C>G (p.Gln1829Glu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00072 in 182437 control chromosomes. The observed variant frequency is approximately 65 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype (1.1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.5485C>G in individuals affected with Dystrophinopathies and no experimental evidence demonstrating its impact on protein function have been reported. Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign/benign, n=9; VUS, n=1). Based on the evidence outlined above, the variant was classified as benign.

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