Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001299012 | SCV001488088 | uncertain significance | MHC class I deficiency | 2021-07-13 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TAP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 306 of the TAP2 protein (p.Ala306Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Ambry Genetics | RCV002543071 | SCV003652603 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.917C>T (p.A306V) alteration is located in exon 5 (coding exon 4) of the TAP2 gene. This alteration results from a C to T substitution at nucleotide position 917, causing the alanine (A) at amino acid position 306 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |