ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)

gnomAD frequency: 0.00004  dbSNP: rs201742496
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711650 SCV000842037 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042734 SCV001206435 uncertain significance Charcot-Marie-Tooth disease type 4 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 469 of the FIG4 protein (p.Gly469Arg). This variant is present in population databases (rs201742496, gnomAD 0.006%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21705420). ClinVar contains an entry for this variant (Variation ID: 585869). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002532917 SCV003553778 uncertain significance Inborn genetic diseases 2021-09-13 criteria provided, single submitter clinical testing Nicholson, 2011; DiVincenzo, 2014 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411648 SCV004114774 uncertain significance FIG4-related disorder 2022-12-16 criteria provided, single submitter clinical testing The FIG4 c.1405G>A variant is predicted to result in the amino acid substitution p.Gly469Arg. This variant has been reported in individuals with Charcot-Marie-Tooth disease, although pathogenicity has not been established (Nicholson et al. 2011. PubMed ID: 21705420; DiVincenzo et al. 2014. PubMed ID: 25614874). This variant is reported in 0.0088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-110085156-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV000711650 SCV005331018 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing FIG4: PM2

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