ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) (rs727503131)

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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 RCV000150929 SCV000198573 uncertain significance not specified 2013-05-24 criteria provided, single submitter clinical testing The Tyr597His variant in LDB3 has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Tyr597His variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. Additional information is needed to full y assess the clinical significance of the Tyr597His variant.
GeneDx RCV000767128 SCV000616765 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LDB3 gene. The Y597H variant has not been published as pathogenic or been reported as benign to our knowledge. The Y597H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y597H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

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