ClinVar Miner

Submissions for variant NM_001165928.3(DAG1):c.2256C>T (p.His752=) (rs1801143)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116863 SCV000268934 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.His752His in exon 6C of DAG1: This variant is not expected to have clinical si gnificance because it has been identified in 31% (2699/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs1801143).
PreventionGenetics,PreventionGenetics RCV000116863 SCV000306919 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116863 SCV000519372 benign not specified 2016-01-05 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.
Leiden Muscular Dystrophy (DAG1) RCV000024446 SCV000045741 not provided not provided 2011-05-13 no assertion provided curation
Genetic Services Laboratory, University of Chicago RCV000116863 SCV000150937 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609944 SCV000734286 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 no assertion criteria provided clinical testing

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