ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)

gnomAD frequency: 0.00004  dbSNP: rs762663195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294855 SCV001483750 uncertain significance Charcot-Marie-Tooth disease type 4 2022-10-17 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 141 of the FIG4 protein (p.Arg141Gln). This variant is present in population databases (rs762663195, gnomAD 0.004%). 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: 998933). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV001843580 SCV002103158 uncertain significance Amyotrophic lateral sclerosis 2022-01-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004743386 SCV005348605 uncertain significance FIG4-related disorder 2024-09-24 no assertion criteria provided clinical testing The FIG4 c.422G>A variant is predicted to result in the amino acid substitution p.Arg141Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% 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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