ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2299dup (p.Glu767fs)

dbSNP: rs1191997383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387550 SCV001588215 pathogenic Charcot-Marie-Tooth disease type 4 2023-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu767Glyfs*17) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387, 30740813). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of FIG4-related conditions (PMID: 25614874). ClinVar contains an entry for this variant (Variation ID: 637500). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002442610 SCV002733960 pathogenic Inborn genetic diseases 2019-09-24 criteria provided, single submitter clinical testing The c.2299dupG variant, located in coding exon 20 of the FIG4 gene, results from a duplication of G at nucleotide position 2299, causing a translational frameshift with a predicted alternate stop codon (p.E767Gfs*17). This alteration has been observed from a cohort of patients referred for Charcot-Marie-Tooth disease genetic testing, but information on the second alteration and clinical features were not available (DiVincenzo C et al. Mol Genet Genomic Med, 2014 Nov;2:522-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Inherited Neuropathy Consortium RCV000789707 SCV000929083 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447236 SCV004174428 uncertain significance Charcot-Marie-Tooth disease type 4J 2016-01-06 no assertion criteria provided literature only

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