ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) (rs377357931)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201166 SCV000255776 pathogenic Charcot-Marie-Tooth disease, type 4J 2014-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623247 SCV000740820 pathogenic Inborn genetic diseases 2015-01-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090680 SCV001246357 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001235453 SCV001408139 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg381*) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377357931, ExAC 0.04%). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21705420). ClinVar contains an entry for this variant (Variation ID: 217228). 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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