ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1670A>G (p.Glu557Gly)

gnomAD frequency: 0.00001  dbSNP: rs1003116892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003056906 SCV003447915 uncertain significance Distal hereditary motor neuropathy type 2 2022-09-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 557 of the FBXO38 protein (p.Glu557Gly). 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 has not been reported in the literature in individuals affected with FBXO38-related conditions. This variant is not present in population databases (gnomAD no frequency).

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