Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001215143 | SCV001386871 | likely pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-04-26 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing part of exon 15 of the FIG4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FIG4-related conditions. Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Ambry Genetics | RCV002402642 | SCV002712208 | likely pathogenic | Inborn genetic diseases | 2019-12-06 | criteria provided, single submitter | clinical testing | The c.1749_1750+7delAGGTAATTC likely pathogenic mutation, which spans coding exon 15 and intron 15 of the FIG4 gene, results from the deletion of 9 nucleotides. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |