ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)

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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 RCV003080620 SCV003485884 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 229 of the PAX2 protein (p.Arg229Gln). This variant is present in population databases (rs753350907, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2170607). 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.
Ambry Genetics RCV004073281 SCV005000122 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.755G>A (p.R252Q) alteration is located in exon 7 (coding exon 7) of the PAX2 gene. This alteration results from a G to A substitution at nucleotide position 755, causing the arginine (R) at amino acid position 252 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV003080620 SCV005659998 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-06-12 criteria provided, single submitter clinical testing

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