ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)

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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 RCV003061335 SCV003460980 uncertain significance Nephronophthisis-like nephropathy 1 2022-06-16 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 247 of the XPNPEP3 protein (p.Lys247Arg).
Undiagnosed Diseases Network, NIH RCV003061335 SCV004812034 uncertain significance Nephronophthisis-like nephropathy 1 2024-02-19 no assertion criteria provided clinical testing

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