Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002957257 | SCV003269775 | uncertain significance | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 2024-10-16 | 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 173 of the PIGM protein (p.Tyr173Cys). This variant is present in population databases (rs147502351, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PIGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 2059769). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PIGM protein function with a positive predictive value of 80%. 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 | RCV004654058 | SCV005149976 | uncertain significance | not specified | 2024-06-17 | criteria provided, single submitter | clinical testing | The c.518A>G (p.Y173C) alteration is located in exon 1 (coding exon 1) of the PIGM gene. This alteration results from a A to G substitution at nucleotide position 518, causing the tyrosine (Y) at amino acid position 173 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |