ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.769G>C (p.Glu257Gln)

gnomAD frequency: 0.00016  dbSNP: rs143996848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248138 SCV001421605 uncertain significance Myofibrillar myopathy 4 2023-09-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 210 of the LDB3 protein (p.Glu210Gln). This variant is present in population databases (rs143996848, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 972169). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001785801 SCV002027818 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#972169; Landrum et al., 2016)
Ambry Genetics RCV002402791 SCV002669527 uncertain significance Cardiovascular phenotype 2022-05-12 criteria provided, single submitter clinical testing The p.E257Q variant (also known as c.769G>C), located in coding exon 5 of the LDB3 gene, results from a G to C substitution at nucleotide position 769. The glutamic acid at codon 257 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001785801 SCV003816513 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing

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