Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001309861 | SCV001499374 | uncertain significance | MHC class I deficiency | 2020-12-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TAP2-related conditions. This variant is present in population databases (rs150217191, ExAC 0.01%). This sequence change replaces alanine with valine at codon 500 of the TAP2 protein (p.Ala500Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Not Available"; Align-GVGD: "Class C0"). |
| Ambry Genetics | RCV004034217 | SCV004962546 | uncertain significance | Inborn genetic diseases | 2024-01-03 | criteria provided, single submitter | clinical testing | The c.1499C>T (p.A500V) alteration is located in exon 9 (coding exon 8) of the TAP2 gene. This alteration results from a C to T substitution at nucleotide position 1499, causing the alanine (A) at amino acid position 500 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |