ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)

dbSNP: rs754127221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225217 SCV001397458 uncertain significance Charcot-Marie-Tooth disease type 4 2022-06-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FIG4-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. ClinVar contains an entry for this variant (Variation ID: 952986). This variant is present in population databases (rs754127221, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 603 of the FIG4 protein (p.Gly603Glu).
GeneDx RCV001751436 SCV001995672 uncertain significance not provided 2019-12-10 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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