ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.689+3886C>G (rs369470035)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824194 SCV000965081 uncertain significance Myofibrillar myopathy, ZASP-related 2020-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 111 of the LDB3 protein (p.Asn111Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs369470035, ExAC 0.001%). This variant has not been reported in the literature in individuals with LDB3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001553385 SCV001774245 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 665826; Landrum et al., 2016)

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