ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter)

dbSNP: rs2113533186
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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 RCV001959669 SCV002247969 uncertain significance Distal hereditary motor neuropathy type 2 2021-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr158*) in the FBXO38 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FBXO38 cause disease. 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 with FBXO38-related conditions. This variant is not present in population databases (ExAC no frequency).

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