ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)

gnomAD frequency: 0.00001  dbSNP: rs745860370
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172962 SCV001336037 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002418604 SCV002721832 uncertain significance Inborn genetic diseases 2020-08-24 criteria provided, single submitter clinical testing The p.G68S variant (also known as c.202G>A), located in coding exon 3 of the FIG4 gene, results from a G to A substitution at nucleotide position 202. The glycine at codon 68 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002558741 SCV003258313 uncertain significance Charcot-Marie-Tooth disease type 4 2024-09-29 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 68 of the FIG4 protein (p.Gly68Ser). This variant is present in population databases (rs745860370, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FIG4-related conditions. ClinVar contains an entry for this variant (Variation ID: 916876). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004743317 SCV005344971 uncertain significance FIG4-related disorder 2024-08-23 no assertion criteria provided clinical testing The FIG4 c.202G>A variant is predicted to result in the amino acid substitution p.Gly68Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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