ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) (rs1375662436)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545760 SCV000642056 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2017-05-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 357 of the TFG protein (p.Tyr357Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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