ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.794G>A (p.Gly265Glu)

dbSNP: rs1847901674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799481 SCV001441339 uncertain significance Renal coloboma syndrome 2020-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880055 SCV002223600 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-04-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 265 of the PAX2 protein (p.Gly265Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 983348). 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.

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