Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000814753 | SCV000955176 | uncertain significance | not provided | 2018-12-07 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SZT2-related conditions. This variant is present in population databases (rs768416733, ExAC 0.002%). This sequence change replaces proline with arginine at codon 1613 of the SZT2 protein (p.Pro1613Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. |
| Ambry Genetics | RCV002534851 | SCV003545383 | uncertain significance | Inborn genetic diseases | 2022-01-31 | criteria provided, single submitter | clinical testing | The c.4838C>G (p.P1613R) alteration is located in exon 33 (coding exon 33) of the SZT2 gene. This alteration results from a C to G substitution at nucleotide position 4838, causing the proline (P) at amino acid position 1613 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Genome- |
RCV003457830 | SCV004180214 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |