Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002735036 | SCV003003940 | uncertain significance | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1918 of the VPS13D protein (p.Ile1918Thr). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with VPS13D-related conditions. This variant is present in population databases (rs145061804, gnomAD 0.01%). |
| Ambry Genetics | RCV003273990 | SCV003959333 | uncertain significance | Inborn genetic diseases | 2023-03-20 | criteria provided, single submitter | clinical testing | The c.5753T>C (p.I1918T) alteration is located in exon 23 (coding exon 22) of the VPS13D gene. This alteration results from a T to C substitution at nucleotide position 5753, causing the isoleucine (I) at amino acid position 1918 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Genomic Medicine Center of Excellence, |
RCV004820918 | SCV005441918 | uncertain significance | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2024-12-19 | criteria provided, single submitter | clinical testing |