Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001325432 | SCV001516424 | uncertain significance | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 374 of the RINT1 protein (p.Arg374Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1025153). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004035161 | SCV002748719 | uncertain significance | not specified | 2023-01-15 | criteria provided, single submitter | clinical testing | The p.R374W variant (also known as c.1120C>T), located in coding exon 9 of the RINT1 gene, results from a C to T substitution at nucleotide position 1120. The arginine at codon 374 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Center for Genomic Medicine, |
RCV003989676 | SCV004807381 | uncertain significance | Infantile liver failure syndrome 3 | 2024-03-26 | criteria provided, single submitter | clinical testing |