ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) (rs774294963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579266 SCV000680961 pathogenic not provided 2017-12-26 criteria provided, single submitter clinical testing The R265X nonsense variant in the FIG4 gene has been reported previously in the compound heterozygous state in two unrelated individuals with inherited peripheral neuopathies (Laššuthová et al., 2016). The R265X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is interpreted to be pathogenic.
Invitae RCV001043299 SCV001207028 pathogenic Charcot-Marie-Tooth disease type 4 2019-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg265*) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774294963, ExAC 0.006%). This variant has been observed in individuals affected with inherited peripheral neuropathy (PMID: 27549087). ClinVar contains an entry for this variant (Variation ID: 488991). Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). For these reasons, this variant has been classified as Pathogenic.

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