ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter)

dbSNP: rs2058187525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001310283 SCV001478549 pathogenic Nephronophthisis-like nephropathy 1 2021-02-10 no assertion criteria provided clinical testing The XPNPEP3 c.1040G>A p. (Trp347Ter) variant is a nonsense, in gene XPNPEP3, for which loss-of-function is a known mechanism of disease. It has not been reported in gnomAD. Pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions. Co-segregation analysis of the variant has determined that it is located in trans with another XPNPEP3 pathogenic variant. Following the ACMG classification criteria, this variant is classified XPNPEP3 c.1040G> A p. (Trp347 *) as pathogenic.

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