Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
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, |
RCV002468593 | SCV002764737 | likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate E | 2021-09-08 | criteria provided, single submitter | clinical testing | |
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 Gmb |
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 |