ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1259A>G (p.His420Arg)

gnomAD frequency: 0.00001  dbSNP: rs952458657
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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 RCV001209560 SCV001381000 uncertain significance Nephronophthisis-like nephropathy 1 2019-06-03 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 420 of the XPNPEP3 protein (p.His420Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with XPNPEP3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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