Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003058855 | SCV003449818 | uncertain significance | 46,XY sex reversal 9 | 2022-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 531 of the ZFPM2 protein (p.Gly531Asp). This variant is present in population databases (rs768867827, gnomAD 0.008%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. |
| Ambry Genetics | RCV003058856 | SCV003749516 | uncertain significance | Inborn genetic diseases | 2022-12-14 | criteria provided, single submitter | clinical testing | The c.1592G>A (p.G531D) alteration is located in exon 8 (coding exon 8) of the ZFPM2 gene. This alteration results from a G to A substitution at nucleotide position 1592, causing the glycine (G) at amino acid position 531 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |