Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004062198 | SCV002741122 | uncertain significance | not specified | 2023-11-16 | criteria provided, single submitter | clinical testing | The p.G852S variant (also known as c.2554G>A), located in coding exon 24 of the KIF1B gene, results from a G to A substitution at nucleotide position 2554. The glycine at codon 852 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Labcorp Genetics |
RCV003101964 | SCV003480646 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-10-18 | criteria provided, single submitter | clinical testing | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 852 of the KIF1B protein (p.Gly852Ser). This variant is present in population databases (rs773982003, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. |