ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)

dbSNP: rs1220044805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578661 SCV001805924 uncertain significance Peroxisome biogenesis disorder 9B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578662 SCV001805925 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368604 SCV002623912 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The p.R13Q variant (also known as c.38G>A), located in coding exon 1 of the PEX7 gene, results from a G to A substitution at nucleotide position 38. The arginine at codon 13 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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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