ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)

dbSNP: rs2133833948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807962 SCV002058284 likely pathogenic Focal segmental glomerulosclerosis 7 2024-04-17 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PMID: 22213154). In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.91; 3Cnet: 0.98]. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PAX2 related disorder (PMID: 33997468). The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 33997468). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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