ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.68G>A (p.Arg23Gln)

gnomAD frequency: 0.00004  dbSNP: rs774808090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702247 SCV000831094 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 23 of the TFG protein (p.Arg23Gln). This variant is present in population databases (rs774808090, gnomAD 0.01%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 35642252). ClinVar contains an entry for this variant (Variation ID: 579063). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TFG protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002369935 SCV002667502 uncertain significance Inborn genetic diseases 2020-02-05 criteria provided, single submitter clinical testing The p.R23Q variant (also known as c.68G>A), located in coding exon 1 of the TFG gene, results from a G to A substitution at nucleotide position 68. The arginine at codon 23 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV001700293 SCV001920558 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700293 SCV001968083 uncertain significance not provided no assertion criteria provided clinical testing

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