Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215425 | SCV001387170 | uncertain significance | 46,XY sex reversal 9 | 2021-07-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 979 of the ZFPM2 protein (p.Asp979Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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 present in population databases (rs201644250, ExAC 0.02%). |
Ambry Genetics | RCV003163652 | SCV003877271 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.2935G>A (p.D979N) 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 2935, causing the aspartic acid (D) at amino acid position 979 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |