ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser)

gnomAD frequency: 0.00003  dbSNP: rs771037817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639871 SCV000761454 uncertain significance Myofibrillar myopathy 4 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 273 of the LDB3 protein (p.Gly273Ser). This variant is present in population databases (rs771037817, gnomAD 0.07%). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 532930). This variant has not been reported in the literature in individuals affected with LDB3-related conditions.
GeneDx RCV001766370 SCV001988624 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 532930; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV001766370 SCV004236236 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing

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