Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001971197 | SCV002260173 | uncertain significance | 46,XY sex reversal 9 | 2021-03-09 | 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 ZFPM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 108 of the ZFPM2 protein (p.Lys108Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
| Ambry Genetics | RCV003289331 | SCV003958269 | uncertain significance | Inborn genetic diseases | 2023-03-20 | criteria provided, single submitter | clinical testing | The c.322A>G (p.K108E) alteration is located in exon 4 (coding exon 4) of the ZFPM2 gene. This alteration results from a A to G substitution at nucleotide position 322, causing the lysine (K) at amino acid position 108 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |