ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)

gnomAD frequency: 0.00002  dbSNP: rs587777714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV000144072 SCV001441408 likely pathogenic Charcot-Marie-Tooth disease type 4J 2020-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857490 SCV002108258 uncertain significance Charcot-Marie-Tooth disease type 4 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 302 of the FIG4 protein (p.Glu302Lys). This variant is present in population databases (rs587777714, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of autosomal recessive Charcot-Marie-Tooth disease (PMID: 21705420). ClinVar contains an entry for this variant (Variation ID: 156015). 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 disruptive. Experimental studies have shown that this missense change affects FIG4 function (PMID: 21705420). 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.
OMIM RCV000144072 SCV000189144 pathogenic Charcot-Marie-Tooth disease type 4J 2011-07-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447114 SCV004174457 uncertain significance Bilateral parasagittal parieto-occipital polymicrogyria 2020-12-22 no assertion criteria provided literature only

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