Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001881335 | SCV002148828 | uncertain significance | not provided | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 39 of the ARPC1B protein (p.Gly39Ser). This variant is present in population databases (rs148509279, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ARPC1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1386167). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV003339789 | SCV004067535 | uncertain significance | Inborn genetic diseases | 2023-06-21 | criteria provided, single submitter | clinical testing | The c.115G>A (p.G39S) alteration is located in exon 3 (coding exon 2) of the ARPC1B gene. This alteration results from a G to A substitution at nucleotide position 115, causing the glycine (G) at amino acid position 39 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005038438 | SCV005671979 | uncertain significance | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 2024-04-15 | criteria provided, single submitter | clinical testing |