ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)

gnomAD frequency: 0.00055  dbSNP: rs147447600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056289 SCV001220725 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 400 of the LMBRD1 protein (p.Ile400Thr). This variant is present in population databases (rs147447600, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with LMBRD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 851811). 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 disruptive. 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 RCV003222208 SCV003918769 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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