Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002958166 | SCV003274099 | uncertain significance | 46,XY sex reversal 9 | 2022-06-27 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 804 of the ZFPM2 protein (p.Thr804Met). |
| Ambry Genetics | RCV004067308 | SCV004983242 | uncertain significance | Inborn genetic diseases | 2024-01-16 | criteria provided, single submitter | clinical testing | The c.2411C>T (p.T804M) alteration is located in exon 8 (coding exon 8) of the ZFPM2 gene. This alteration results from a C to T substitution at nucleotide position 2411, causing the threonine (T) at amino acid position 804 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |