Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000803605 | SCV000943484 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2022-08-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 648800). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 978 of the AP3B1 protein (p.Pro978Ser). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. |