ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.200A>G (p.Asn67Ser)

dbSNP: rs727504500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155638 SCV000205346 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The Asn67Ser variant in LDB3 has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in l arge European American and African American populations by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS), though it may be present in ot her populations. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or a gainst an impact to the protein. At this time, additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV000766623 SCV000581943 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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