ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.1087T>G (p.Phe363Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233756 SCV001406365 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 363 of the TFG protein (p.Phe363Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is present in population databases (rs758939134, ExAC 0.05%). This variant has not been reported in the literature in individuals with TFG-related conditions. 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: "Benign"; 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.

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