ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.505A>G (p.Lys169Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337839 SCV004048193 uncertain significance Glomerulopathy with fibronectin deposits 2 criteria provided, single submitter clinical testing The missense variant in c.505A>G(p.Lys169Glu) in INF2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys169Glu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Lysine at position 169 is changed to a Glutamic acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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