Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000796631 | SCV000936152 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2024-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 816 of the PIGN protein (p.Tyr816Cys). This variant is present in population databases (rs200750917, gnomAD 0.01%). 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: 643029). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
| Athena Diagnostics | RCV000992537 | SCV001144934 | uncertain significance | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000992537 | SCV001983194 | uncertain significance | not provided | 2024-03-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV003243304 | SCV003939504 | uncertain significance | Inborn genetic diseases | 2023-06-13 | criteria provided, single submitter | clinical testing | The c.2447A>G (p.Y816C) alteration is located in exon 27 (coding exon 24) of the PIGN gene. This alteration results from a A to G substitution at nucleotide position 2447, causing the tyrosine (Y) at amino acid position 816 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |