ClinVar Miner

Submissions for variant NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) (rs387906530)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000014811 SCV000891288 likely pathogenic Renal coloboma syndrome 2016-08-24 criteria provided, single submitter clinical testing
Invitae RCV001377629 SCV001575012 likely pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2020-08-08 criteria provided, single submitter clinical testing This variant, c.221_226dup, results in the insertion of 2 amino acid(s) to the PAX2 protein (p.Glu74_Thr75dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with papillorenal syndrome (PMID: 9760197, 29054766). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 13800). This variant has been reported to affect PAX2 protein function (PMID: 20221250). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Precision Medicine Center,Zhengzhou University RCV000014811 SCV001593013 likely pathogenic Renal coloboma syndrome criteria provided, single submitter research PM1:Located in a mutational hot spot PM2:not found in gnomAD PM4:Protein length changes as a result of in-frame deletions PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product
OMIM RCV000014811 SCV000035066 pathogenic Renal coloboma syndrome 2012-03-01 no assertion criteria provided literature only

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