Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002428123 | SCV002726237 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.2224G>T (p.V742F) alteration is located in exon 24 (coding exon 21) of the PIGN gene. This alteration results from a G to T substitution at nucleotide position 2224, causing the valine (V) at amino acid position 742 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003101142 | SCV003298017 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 742 of the PIGN protein (p.Val742Phe). This variant is present in population databases (rs368704155, gnomAD 0.008%). 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 (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. |