ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.400T>C (p.Tyr134His)

dbSNP: rs2128384043
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225206 SCV002503766 uncertain significance Charcot-Marie-Tooth disease type 4J 2023-03-30 criteria provided, single submitter clinical testing This sequence change is predicted to replace tyrosine with histidine at codon 134 of the FIG4 protein (p.(Tyr134His)). The tyrosine residue is evolutionarily conserved (100 vertebrates, UCSC), and is located in the SacI homology domain. There is a moderate physicochemical difference between tyrosine and histidine. The variant is absent in a large population cohort (PM2; gnomAD v2.1 and v3.0), and has been not been reported in the relevant medical literature or databases. Multiple lines of computational evidence predict a deleterious effect for the missense substitution (PP3; 4/6 algorithms). Based on the classification scheme RMH ACMG Guidelines v1.2.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2, PP3.

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