ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.43+5G>A

dbSNP: rs878853000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995594 SCV001149864 likely pathogenic Focal segmental glomerulosclerosis 7 2019-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536030 SCV004117845 uncertain significance PAX2-related disorder 2022-11-18 criteria provided, single submitter clinical testing The PAX2 c.43+5G>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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