Total submissions: 4
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, |
RCV003447236 | SCV004174428 | uncertain significance | Charcot-Marie-Tooth disease type 4J | 2016-01-06 | no assertion criteria provided | literature only |