ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) (rs139709036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171996 SCV000054756 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038731 SCV000062409 uncertain significance not specified 2012-04-11 criteria provided, single submitter clinical testing The Val491Glu variant (LDB3) has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val 491Glu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. This variant has been identified in 0.03% (1 /3738) of African American chromosomes from a broad population by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs139709036). In summary, additional information is needed to fully assess the clinical signific ance of the Val491Glu variant.

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