ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys)

dbSNP: rs773370724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001919544 SCV002188274 uncertain significance Myofibrillar myopathy 4 2022-06-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 120 of the LDB3 protein (p.Glu120Lys).
Revvity Omics, Revvity RCV003134253 SCV003816506 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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