ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.391C>T (p.Pro131Ser) (rs770053266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543034 SCV000642062 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2017-06-07 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 131 of the TFG protein (p.Pro131Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs770053266, ExAC 0.01%). This variant has not been reported in the literature in individuals with a TFG-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on TFG function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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