Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705620 | SCV000834625 | uncertain significance | 46,XY sex reversal 9 | 2022-09-16 | 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. ClinVar contains an entry for this variant (Variation ID: 560631). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. This variant is present in population databases (rs200311467, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 440 of the ZFPM2 protein (p.Lys440Glu). |
Clinical Molecular Genetics Laboratory, |
RCV000678773 | SCV000804952 | uncertain significance | Tetralogy of Fallot | 2017-06-08 | no assertion criteria provided | clinical testing |