ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.533C>G (p.Ser178Cys)

dbSNP: rs2133897760
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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 RCV001966334 SCV002255468 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-02-13 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 178 of the PAX2 protein (p.Ser178Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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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