ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247130 SCV000319654 uncertain significance Cardiovascular phenotype 2015-05-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;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 RCV000369939 SCV000520358 likely benign not specified 2018-01-08 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.
Invitae RCV001085412 SCV000560861 benign Duchenne muscular dystrophy 2019-12-31 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.

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