Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000686302 | SCV000813814 | uncertain significance | Spondyloenchondrodysplasia with immune dysregulation | 2022-03-02 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 80 of the ACP5 protein (p.Asp80Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs528748445, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 566480). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV002544744 | SCV003760322 | uncertain significance | Inborn genetic diseases | 2022-07-25 | criteria provided, single submitter | clinical testing | The c.238G>A (p.D80N) alteration is located in exon 4 (coding exon 1) of the ACP5 gene. This alteration results from a G to A substitution at nucleotide position 238, causing the aspartic acid (D) at amino acid position 80 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |