ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys)

gnomAD frequency: 0.00005  dbSNP: rs761750025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794869 SCV000934302 uncertain significance Nephronophthisis-like nephropathy 1 2022-02-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 641596). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This variant is present in population databases (rs761750025, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 40 of the XPNPEP3 protein (p.Arg40Lys).
Fulgent Genetics, Fulgent Genetics RCV000794869 SCV002793070 uncertain significance Nephronophthisis-like nephropathy 1 2022-05-15 criteria provided, single submitter clinical testing

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