ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.165C>T (p.Ser55=)

dbSNP: rs1845370334
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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 RCV001985372 SCV002217700 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PAX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 55 of the PAX2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PAX2 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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