Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414390 | SCV000492272 | uncertain significance | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the INF2 gene. The V397M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V397M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V397M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001226432 | SCV001398745 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338975 | SCV002641714 | uncertain significance | Inborn genetic diseases | 2020-02-03 | criteria provided, single submitter | clinical testing | The p.V397M variant (also known as c.1189G>A), located in coding exon 7 of the INF2 gene, results from a G to A substitution at nucleotide position 1189. The valine at codon 397 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV001226432 | SCV002799649 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-03-19 | criteria provided, single submitter | clinical testing |