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 2019-01-15 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 RCV000518200 SCV000725353 likely benign not specified 2017-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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