Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000703408 | SCV000832306 | uncertain significance | MHC class I deficiency | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 567 of the TAP1 protein (p.Asp567Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs200865723, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV004965700 | SCV005511113 | uncertain significance | Inborn genetic diseases | 2024-09-30 | criteria provided, single submitter | clinical testing | The c.1699G>A (p.D567N) alteration is located in exon 7 (coding exon 7) of the TAP1 gene. This alteration results from a G to A substitution at nucleotide position 1699, causing the aspartic acid (D) at amino acid position 567 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |