Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000813636 | SCV000954003 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 320 of the PIGN protein (p.Asn320Ser). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 657083). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIGN 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. |
| Gene |
RCV001796244 | SCV002032445 | uncertain significance | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Revvity Omics, |
RCV000813636 | SCV003808342 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2019-12-13 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004958138 | SCV005469362 | uncertain significance | Inborn genetic diseases | 2024-09-30 | criteria provided, single submitter | clinical testing | The c.959A>G (p.N320S) alteration is located in exon 11 (coding exon 8) of the PIGN gene. This alteration results from a A to G substitution at nucleotide position 959, causing the asparagine (N) at amino acid position 320 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |