ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)

dbSNP: rs373917063
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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 RCV001945492 SCV002188569 pathogenic Nephronophthisis-like nephropathy 1 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1415192). This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This variant is present in population databases (rs373917063, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg29*) 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).

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