ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)

gnomAD frequency: 0.00005  dbSNP: rs200458194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171990 SCV000050971 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171990 SCV000235993 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Invitae RCV001324560 SCV001515517 uncertain significance Myofibrillar myopathy 4 2022-04-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 116 of the LDB3 protein (p.Ala116Thr). This variant is present in population databases (rs200458194, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with LDB3-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 191696). 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. 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.
Revvity Omics, Revvity RCV000171990 SCV004236235 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing

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