ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.43+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
Labcorp Genetics (formerly Invitae), Labcorp RCV003027543 SCV003332054 pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-10-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the PAX2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PAX2 are known to be pathogenic (PMID: 11461952, 24676634, 35444690). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with PAX2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2117050). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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