Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001012 | SCV001158120 | uncertain significance | Immunodeficiency, common variable, 5 | 2019-01-30 | criteria provided, single submitter | clinical testing | The p.Ala65Val variant (rs146626926) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.002 percent (identified on 7 out of 282,680 chromosomes). The alanine at position 65 is moderately conserved considering 14 species and computational analyses of the p.Ala65Val variant on protein structure and function indicates a neutral effect (SIFT: tolerated, PolyPhen-2: benign). Given the rarity in the population, there is not enough evidence to classify the p.Ala65Val variant with certainty. |