ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys)

dbSNP: rs2133989654
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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 RCV001969626 SCV002265112 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-06-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 385 of the PAX2 protein (p.Thr385Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant has not been reported in the literature in individuals with PAX2-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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