ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.23C>T (p.Ala8Val)

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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 RCV001001112 SCV001158249 uncertain significance Agammaglobulinemia 8, autosomal dominant 2019-03-11 criteria provided, single submitter clinical testing The p.Ala8Val variant (rs376780559) 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 0.01 percent in the European Non-Finnish (identified on 11 out of 91,746 chromosomes). The alanine at position 8 is moderately conserved and computational analyses of the effects of the p.Ala8Val variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Ala8Val variant with certainty.

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