ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1806T>A (p.Asp602Glu)

dbSNP: rs1222414075
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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 RCV002029060 SCV002296716 uncertain significance Distal hereditary motor neuropathy type 2 2021-09-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with FBXO38-related conditions. This sequence change replaces aspartic acid with glutamic acid at codon 602 of the FBXO38 protein (p.Asp602Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency).

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