ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627390 SCV000748384 likely pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the FIG4 gene. The c.1239_1241delTATinsATA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1239_1241delTATinsATA variant results in a deletion of three bases and an insertion of three bases, changing the amino acid Tyrosine to a Stop codon residue, denoted p.Tyr413X. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, this variant is not observed in large population cohorts (Lek et al., 2016). Furthermore, other nonsense variants downstream of this position have been reported in the Human Gene Mutation Database in association with FIG4-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Inherited Neuropathy Consortium RCV000789117 SCV000928468 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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