Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001298238 | SCV001487285 | uncertain significance | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 671 of the RINT1 protein (p.Phe671Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RINT1-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV004036095 | SCV003854948 | uncertain significance | not specified | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.F671L variant (also known as c.2011T>C), located in coding exon 13 of the RINT1 gene, results from a T to C substitution at nucleotide position 2011. The phenylalanine at codon 671 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |