ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn)

gnomAD frequency: 0.00001  dbSNP: rs774522659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521351 SCV000617926 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003766943 SCV004659738 uncertain significance Myofibrillar myopathy 4 2023-01-12 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 449616). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs774522659, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 182 of the LDB3 protein (p.Ser182Asn).

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