Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001369509 | SCV001565951 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2022-05-05 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 758 of the PIGN protein (p.Cys758Arg). 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 variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060126). 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. 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 | RCV003284282 | SCV003956889 | uncertain significance | Inborn genetic diseases | 2023-05-22 | criteria provided, single submitter | clinical testing | The c.2272T>C (p.C758R) alteration is located in exon 24 (coding exon 21) of the PIGN gene. This alteration results from a T to C substitution at nucleotide position 2272, causing the cysteine (C) at amino acid position 758 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |