ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.336CAT[2] (p.Ile114del)

dbSNP: rs2526313875
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria RCV003484239 SCV004231801 uncertain significance Nephrotic syndrome, type 2 2023-11-23 criteria provided, single submitter clinical testing The c.342_344del p.(Ile114del) NPHS2 variant in compound heterocigous state with c.686G>A p.(Arg229Gln) has been reported in our laboratory in a 56-year-old male patient with multiple renal cysts and proteinuria in the nephrotic range and hypoalbuminemia. He had previously been diagnosed with kidney cancer at age 50 (unilateral nephrectomy) with no family history of nephrological diseases. This variant is not present in population databases (gnomAD no frequency). ClinVar doesn´t contain entries for this variant and this variant has never been reported in NPHS2 related-disorders. In silico analysis (CADD, Revel) are not conclusive about the effect on protein structure/function, and this prediction has not been confirmed by functional studies. In summary, the available evidence for c.342_344del p.(Ile114del) NPHS2 variant 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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