ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) (rs142441725)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080665 SCV000112567 likely benign not specified 2014-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000080665 SCV000235874 likely benign not specified 2017-03-09 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 RCV000080665 SCV000270129 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing p.Glu1874Lys in exon 40 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (25/8489) of African chromosom es, including 6 hemizygotes, by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs142441725).
Illumina Clinical Services Laboratory,Illumina RCV000304972 SCV000482242 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000533044 SCV000625927 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622057 SCV000736716 likely benign Cardiovascular phenotype 2018-10-03 criteria provided, single submitter clinical testing Other strong data supporting benign classification

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