ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)

gnomAD frequency: 0.00002  dbSNP: rs369224308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173944 SCV001337063 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873625 SCV002252284 uncertain significance Charcot-Marie-Tooth disease type 4 2022-05-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 917238). This variant has not been reported in the literature in individuals affected with PRX-related conditions. This variant is present in population databases (rs369224308, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 970 of the PRX protein (p.Arg970Trp).

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