ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.200A>G (p.Asn67Ser) (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, Partners HealthCare 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 2017-04-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LDB3 gene. The N67S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N67S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the N67S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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