Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063029 | SCV001227859 | uncertain significance | 46,XY sex reversal 9 | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 206 of the ZFPM2 protein (p.Leu206Pro). This variant is present in population databases (rs368572530, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 857370). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Ambry Genetics | RCV003160513 | SCV003869461 | uncertain significance | Inborn genetic diseases | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.617T>C (p.L206P) alteration is located in exon 6 (coding exon 6) of the ZFPM2 gene. This alteration results from a T to C substitution at nucleotide position 617, causing the leucine (L) at amino acid position 206 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |