ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser)

gnomAD frequency: 0.00004  dbSNP: rs370650205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700770 SCV000829541 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 407 of the GARS protein (p.Gly407Ser). This variant is present in population databases (rs370650205, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 577910). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GARS protein function. 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 RCV004026528 SCV002755252 uncertain significance not specified 2021-03-19 criteria provided, single submitter clinical testing The p.G407S variant (also known as c.1219G>A), located in coding exon 10 of the GARS gene, results from a G to A substitution at nucleotide position 1219. The glycine at codon 407 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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