ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.76G>A (p.Val26Met)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002927009 SCV003256980 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 26 of the PAX2 protein (p.Val26Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2048050). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004066228 SCV005000123 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.76G>A (p.V26M) alteration is located in exon 2 (coding exon 2) of the PAX2 gene. This alteration results from a G to A substitution at nucleotide position 76, causing the valine (V) at amino acid position 26 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.