Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001055360 | SCV001219748 | uncertain significance | MHC class I deficiency | 2022-07-06 | 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 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"). ClinVar contains an entry for this variant (Variation ID: 851044). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs372354865, gnomAD 0.04%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 399 of the TAPBP protein (p.Thr399Asn). |
| Ambry Genetics | RCV002553792 | SCV003646645 | uncertain significance | Inborn genetic diseases | 2021-07-06 | criteria provided, single submitter | clinical testing | The c.1196C>A (p.T399N) alteration is located in exon 5 (coding exon 5) of the TAPBP gene. This alteration results from a C to A substitution at nucleotide position 1196, causing the threonine (T) at amino acid position 399 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |