ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)

gnomAD frequency: 0.00003  dbSNP: rs761769929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173935 SCV001337054 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001309595 SCV001499100 uncertain significance Charcot-Marie-Tooth disease type 4 2022-02-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 939 of the PRX protein (p.Ser939Leu). This variant is present in population databases (rs761769929, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 917234). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509035 SCV001715530 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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