ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.182A>G (p.Glu61Gly)

gnomAD frequency: 0.00001  dbSNP: rs779928693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173757 SCV001336871 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002411668 SCV002716277 uncertain significance Inborn genetic diseases 2019-10-28 criteria provided, single submitter clinical testing The p.E61G variant (also known as c.182A>G), located in coding exon 2 of the PRX gene, results from an A to G substitution at nucleotide position 182. The glutamic acid at codon 61 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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