ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)

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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 RCV003048999 SCV003342492 uncertain significance Nephronophthisis-like nephropathy 1 2023-04-20 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2121113). This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 495 of the XPNPEP3 protein (p.Glu495Lys).

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