ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])

dbSNP: rs1555801137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238486 SCV001411300 uncertain significance Charcot-Marie-Tooth disease type 4 2019-09-09 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PRX-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1483_1560dup, results in the insertion of 26 amino acid(s) to the PRX protein (p.Glu495_Val520dup), but otherwise preserves the integrity of the reading frame.

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