ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)

gnomAD frequency: 0.00007  dbSNP: rs138490772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001849974 SCV002234077 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-05-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 392 of the PAX2 protein (p.Ala392Thr). This variant is present in population databases (rs138490772, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of PAX2-related conditions (PMID: 22213154). This variant is also known as NM_003990:c.1160G>A p.(Ser387Asn). ClinVar contains an entry for this variant (Variation ID: 157679). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV001849974 SCV005657638 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-02-05 criteria provided, single submitter clinical testing
GeneReviews RCV000144975 SCV000192003 not provided Renal coloboma syndrome no assertion provided literature only

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