ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.234G>A (p.Ser78=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231540 SCV001404066 uncertain significance Charcot-Marie-Tooth disease, type I 2020-03-29 criteria provided, single submitter clinical testing This sequence change affects codon 78 of the MPZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPZ protein. This variant also falls at the last nucleotide of exon 2 of the MPZ coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs368149365, ExAC 0.009%). This variant has not been reported in the literature in individuals with MPZ-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Baylor Genetics RCV001329968 SCV001521543 uncertain significance Dejerine-Sottas disease 2020-02-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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