ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)

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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 RCV003597861 SCV004510073 pathogenic Nephronophthisis-like nephropathy 1 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln84*) in the XPNPEP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XPNPEP3 are known to be pathogenic (PMID: 20179356). This variant is present in population databases (rs759863454, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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