ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*4043G>C (rs146205352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654259 SCV000776149 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286544 SCV001473138 uncertain significance none provided 2019-07-25 criteria provided, single submitter clinical testing The PRX c.3838G>C; p.Glu1280Gln variant (rs146205352), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 543486). This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.45 percent in the African population (identified on 100 out of 22,178 chromosomes). The glutamic acid at position 1280 is highly conserved and computational analyses of the effects of the p.Glu1280Gln variant on protein structure and function is conflicting (SIFT: tolerated, PolyPhen-2: probably damaging). In addition computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site/weakening the nearby canonical splice site. Overall, there is not enough evidence to classify the p.Glu1280Gln variant with certainty.

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