ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) (rs1554309093)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687842 SCV000815430 pathogenic Charcot-Marie-Tooth disease type 4 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln796*) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the heterozygous state in an individual affected with distal motor neuropathy and optic atrophy (PMID: 28251916). This variant has also been reported in an individual who underwent testing for Charcot-Marie-Tooth disease (PMID: 25614874). 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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