ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.641G>A (p.Arg214His)

gnomAD frequency: 0.00001  dbSNP: rs267606879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380435 SCV001578513 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt INF2 protein function. ClinVar contains an entry for this variant (Variation ID: 1053). This missense change has been observed in individual(s) with clinical features of focal segmental glomerulosclerosis (PMID: 20023659, 30126379, 30406062). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 214 of the INF2 protein (p.Arg214His).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002293971 SCV002587548 likely pathogenic Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001380435 SCV002811492 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-12-25 criteria provided, single submitter clinical testing
Eurofins-Biomnis RCV000001108 SCV003935065 likely pathogenic Focal segmental glomerulosclerosis 5 2022-11-03 criteria provided, single submitter clinical testing
OMIM RCV000001108 SCV000021258 pathogenic Focal segmental glomerulosclerosis 5 2010-01-01 no assertion criteria provided literature only

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