ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.658G>A (p.Glu220Lys)

dbSNP: rs530391015
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626959 SCV000747662 likely pathogenic Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertensive disorder 2017-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711995 SCV000842408 pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing This variant has been identified in multiple individuals with focal segmental glomerulosclerosis and segregates with disease in multiple families. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging. The variant is located in a region that is considered important for protein function and/or structure.
Invitae RCV001860480 SCV002244579 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-09-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 220 of the INF2 protein (p.Glu220Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with dominant focal segmental glomerulosclerosis (PMID: 20023659, 21258034, 23515051). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 523533). 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. For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV000735784 SCV002580806 likely pathogenic Focal segmental glomerulosclerosis 5 2022-03-02 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468593 SCV002764737 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2021-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001860480 SCV002804306 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000735784 SCV003835210 pathogenic Focal segmental glomerulosclerosis 5 2022-05-14 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735784 SCV000863946 pathogenic Focal segmental glomerulosclerosis 5 2018-09-14 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790334 SCV000929744 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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