Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001914221 | SCV002191454 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2022-11-27 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; 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. ClinVar contains an entry for this variant (Variation ID: 1420362). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs748322548, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 89 of the AP3B1 protein (p.Ser89Gly). |
Ambry Genetics | RCV004955852 | SCV005458407 | uncertain significance | Inborn genetic diseases | 2024-08-05 | criteria provided, single submitter | clinical testing | The c.265A>G (p.S89G) alteration is located in exon 3 (coding exon 3) of the AP3B1 gene. This alteration results from a A to G substitution at nucleotide position 265, causing the serine (S) at amino acid position 89 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |