Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000490158 | SCV000577331 | uncertain significance | not provided | 2017-04-04 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the INF2 gene. The T1179A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T1179A variant is observed in 1/62,090 alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T1179A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000649970 | SCV000771807 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002455952 | SCV002616165 | uncertain significance | Inborn genetic diseases | 2019-12-18 | criteria provided, single submitter | clinical testing | The p.T1179A variant (also known as c.3535A>G), located in coding exon 20 of the INF2 gene, results from an A to G substitution at nucleotide position 3535. The threonine at codon 1179 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well 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, |
RCV000649970 | SCV002792941 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-08-02 | criteria provided, single submitter | clinical testing |