ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys)

gnomAD frequency: 0.00006  dbSNP: rs377201153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180202 SCV000232596 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000700421 SCV000829175 uncertain significance Myofibrillar myopathy 4 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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: 198762). This variant is present in population databases (rs377201153, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 263 of the LDB3 protein (p.Arg263Cys).
GeneDx RCV000180202 SCV001993454 uncertain significance not provided 2019-08-12 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 but additional evidence is not available (ClinVar Variant ID# 198762; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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