ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1890-2A>G

dbSNP: rs1777909965
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205918 SCV001377200 likely pathogenic Charcot-Marie-Tooth disease type 4 2023-07-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the FIG4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387, 30740813). This variant is not present in population databases (gnomAD no frequency). 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: 936986). 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 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.

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