ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.944C>T (p.Pro315Leu) (rs753375115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642393 SCV000764063 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2019-05-13 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 315 of the TFG protein (p.Pro315Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs753375115, ExAC 0.06%). This variant has not been reported in the literature in individuals with TFG-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.

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