ClinVar Miner

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

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Total submissions: 5
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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.
Invitae RCV001046714 SCV001210628 pathogenic Charcot-Marie-Tooth disease type 4 2019-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg183*) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908288, ExAC 0.006%). This variant has been reported in combination with another FIG4 variant in two siblings affected with Charcot-Marie-Tooth disease, type 4 (PMID: 17572665) and in an individual affected with amyotropic lateral sclerosis (PMID: 19118816). This variant is also known as c.718C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 1723). Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). For these reasons, this variant has been classified as Pathogenic.
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University RCV001095516 SCV001251097 likely pathogenic Amyotrophic lateral sclerosis 2020-03-31 criteria provided, single submitter research
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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