ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.556T>C (p.Ser186Pro)

dbSNP: rs267606877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001105 SCV000021255 pathogenic Focal segmental glomerulosclerosis 5 2010-01-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003934790 SCV004749537 pathogenic INF2-related disorder 2024-06-06 no assertion criteria provided clinical testing The INF2 c.556T>C variant is predicted to result in the amino acid substitution p.Ser186Pro. This variant has been reported to be pathogenic for autosomal dominant focal segmental glomerulosclerosis (FSGS); and this variant has been shown to likely increase INF2 interaction with profilin 2 and the F-actin capping protein, resulting in aberrant regulation of actin dynamics (Brown et al. 2010. PubMed ID: 20023659; Rollason et al. 2016. PubMed ID: 26764407). 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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