ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.25G>A (p.Gly9Arg)

gnomAD frequency: 0.00001  dbSNP: rs200716443
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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 RCV001926783 SCV002206160 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2022-09-08 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1425621). This variant has not been reported in the literature in individuals affected with TFG-related conditions. This variant is present in population databases (rs200716443, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 9 of the TFG protein (p.Gly9Arg). 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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