ClinVar Miner

Submissions for variant NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) (rs146626926)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001012 SCV001158120 uncertain significance Common variable immunodeficiency 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.

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