ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) (rs121908288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235305 SCV000292949 pathogenic not provided 2015-06-17 criteria provided, single submitter clinical testing The R183X nonsense variant in the FIG4 gene has been reported previously in association with CMT4J (Chow et al., 2007). Heterozygosity for the R183X mutation is also reported to be a risk factor for developing amyotrophic lateral sclerosis (ALS) (Chow et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
OMIM RCV000001793 SCV000021949 pathogenic Charcot-Marie-Tooth disease, type 4J 2007-07-05 no assertion criteria provided literature only
OMIM RCV000001796 SCV000021952 pathogenic Amyotrophic lateral sclerosis type 11 2009-01-01 no assertion criteria provided literature only

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