Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243904 | SCV001417091 | uncertain significance | MHC class I deficiency | 2020-12-10 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TAPBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 968707). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant, c.166_169delinsG, results in the deletion of 2 amino acid(s) of the TAPBP protein (p.Pro56_Arg57delinsGly), but otherwise preserves the integrity of the reading frame. |