ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)

gnomAD frequency: 0.00004  dbSNP: rs369470035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824194 SCV000965081 uncertain significance Myofibrillar myopathy 4 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 111 of the LDB3 protein (p.Asn111Lys). This variant is present in population databases (rs369470035, gnomAD 0.002%). 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: 665826). 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 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)
Centogene AG - the Rare Disease Company RCV001809847 SCV002059287 uncertain significance Dilated cardiomyopathy 1C 2020-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001553385 SCV004701346 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing LDB3: PP3

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