Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002781270 | SCV003031360 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2022-03-09 | 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. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 250 of the PIGN protein (p.Gly250Glu). This variant is present in population databases (rs761044680, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. 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 glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
| Ambry Genetics | RCV004064768 | SCV005005599 | uncertain significance | Inborn genetic diseases | 2023-12-26 | criteria provided, single submitter | clinical testing | The c.749G>A (p.G250E) alteration is located in exon 9 (coding exon 6) of the PIGN gene. This alteration results from a G to A substitution at nucleotide position 749, causing the glycine (G) at amino acid position 250 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |