ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.646-7C>G (rs377495735)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518200 SCV000614113 uncertain significance not specified 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV000531660 SCV000636252 uncertain significance Charcot-Marie-Tooth disease, type I 2020-01-27 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the MPZ gene. It does not directly change the encoded amino acid sequence of the MPZ protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MPZ-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV001537849 SCV000725353 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)

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