Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209792 | SCV001381242 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2022-10-24 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 940251). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs768483549, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 828 of the AP3B1 protein (p.Ser828Pro). |
Ambry Genetics | RCV002561717 | SCV003626903 | uncertain significance | Inborn genetic diseases | 2022-06-21 | criteria provided, single submitter | clinical testing | The c.2482T>C (p.S828P) alteration is located in exon 22 (coding exon 22) of the AP3B1 gene. This alteration results from a T to C substitution at nucleotide position 2482, causing the serine (S) at amino acid position 828 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |