ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)

gnomAD frequency: 0.00001  dbSNP: rs1368013631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851563 SCV002235112 pathogenic Charcot-Marie-Tooth disease type 4 2021-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp348Glyfs*12) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 17572665). ClinVar contains an entry for this variant (Variation ID: 1724). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001794 SCV000021950 pathogenic Charcot-Marie-Tooth disease type 4J 2007-07-05 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789115 SCV000928466 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000001794 SCV004174430 uncertain significance Charcot-Marie-Tooth disease type 4J 2016-01-06 no assertion criteria provided literature only

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