ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.274_288del (p.Thr92_Val96del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004768068 SCV005379832 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005221049 SCV005863869 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-11-06 criteria provided, single submitter clinical testing This variant, c.274_288del, results in the deletion of 5 amino acid(s) of the PAX2 protein (p.Thr92_Val96del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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