Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001218588 | SCV001390476 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1040 of the AP3B1 protein (p.Asp1040His). This variant is present in population databases (rs764848036, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 947498). 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 | RCV003373048 | SCV004073479 | uncertain significance | Inborn genetic diseases | 2023-08-21 | criteria provided, single submitter | clinical testing | The c.3118G>C (p.D1040H) alteration is located in exon 26 (coding exon 26) of the AP3B1 gene. This alteration results from a G to C substitution at nucleotide position 3118, causing the aspartic acid (D) at amino acid position 1040 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |