ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.793-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388805 SCV004100648 likely pathogenic Renal coloboma syndrome criteria provided, single submitter clinical testing The splice acceptor variant c.793-1G>A in PAX2 (NM_000278.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.793-1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice nucleotide and hence is expected to cause loss of protein function. Loss of function variants have previously been reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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