ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.529C>T (p.Arg177Cys)

dbSNP: rs1595166085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995568 SCV001149810 likely pathogenic Focal segmental glomerulosclerosis 5 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731076 SCV005335551 pathogenic INF2-related disorder 2024-06-13 no assertion criteria provided clinical testing The INF2 c.529C>T variant is predicted to result in the amino acid substitution p.Arg177Cys. This variant has been reported in individuals with focal segmental glomerulosclerosis (FSGS) (see for example, Table 2, Barua et al. 2013. PubMed ID: 23014460; Table S3, Wang et al. 2019. PubMed ID: 31308072; Table S2, Park et al. 2020. PubMed ID: 32604935; Table 1, Braunisch et al. 2020. PubMed ID: 32887937; Table 1, Nagano et al. 2022. PubMed ID: 36176665). Alternative missense variants (p.Arg177His; p.Arg177Pro) have been reported in individuals with FSGS (Boyer et al. 2011. PubMed ID: 21258034; Groopman et al. 2019. PubMed ID: 30586318) suggesting that substitution of amino acid residue p.Arg177 is not tolerated. This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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