Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001917099 | SCV002153800 | uncertain significance | not provided | 2024-10-21 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 333 of the SERPING1 protein (p.Ala333Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SERPING1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1379992). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant disrupts the p.Ala333 amino acid residue in SERPING1. Other variant(s) that disrupt this residue have been observed in individuals with SERPING1-related conditions (PMID: 18586324, 22129507), which suggests that this may be a clinically significant amino acid residue. 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. |
| Fulgent Genetics, |
RCV002506949 | SCV002814712 | uncertain significance | Hereditary angioedema type 1; C1 inhibitor deficiency | 2022-04-05 | criteria provided, single submitter | clinical testing |