ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.789C>G (p.His263Gln) (rs757469397)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001526879 SCV001737545 uncertain significance Charcot-Marie-Tooth disease, type 4H 2021-06-18 criteria provided, single submitter clinical testing The FGD4 variant c.378C>G (p.(His126Gln)) is found at a population frequency of 0.0024% in the gnomAD database, it affects a weakly conserved nucleotide and a weakly conserved amino acid and there is a small physicochemical difference between His and Gln. This variant has a benign computational verdict based on 12 benign predictions from BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster, PolyPhen-2, PrimateAI and SIFT vs no pathogenic predictions, although some in silico prediction programs predict an influence of this variant on RNA-splicing (SpliceSiteFinder-like, MaxEntScan & GeneSplicer vs varSEAK Splice Site Prediction and NNSPLICE). ACMG criteria used for classification: PM2.

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