ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.759del (p.Phe254fs) (rs764717219)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Weber Lab,Hannover Medical School RCV000416492 SCV000299295 pathogenic Amyotrophic lateral sclerosis type 11 2016-09-13 criteria provided, single submitter research
Athena Diagnostics Inc RCV000517693 SCV000613305 pathogenic not provided 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000533386 SCV000657870 pathogenic Charcot-Marie-Tooth disease type 4 2019-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe254Serfs*8) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764717219, ExAC 0.009%). This variant has been reported in individuals affected with autosomal recessive Charcot-Marie-Tooth disease (PMID: 17572665, 21705420). Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000517693 SCV001246356 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000001795 SCV000021951 pathogenic Charcot-Marie-Tooth disease, type 4J 2007-07-05 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789114 SCV000928465 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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