Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549964 | SCV000652104 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324037 | SCV002608923 | likely benign | Inborn genetic diseases | 2019-12-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV000549964 | SCV002793312 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Sydney Genome Diagnostics, |
RCV001328082 | SCV001449338 | uncertain significance | Nephrotic syndrome | 2018-10-25 | no assertion criteria provided | clinical testing | This patient is heterozygous for a c.3133C>T (p.Arg1045Trp) in exon 21 of the INF2 gene. To our knowledge, this variant has not been previously reported. p.Arg1045 is a weakly conserved amino acid (considering 12 species) and there is a moderate physicochemical difference between the wild type arginine and the variant tryptophan. In silico analysis (Alamut Visual v2.4) is inconclusive regarding this variant. Align GVGD and Mutation Taster predict this variant to be benign whereas PolyPhen and SIFT predict it to be pathogenic. |