ClinVar Miner

Submissions for variant NM_001770.5(CD19):c.395T>G (p.Leu132Arg) (rs146795664)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000507164 SCV000396421 uncertain significance Common variable immunodeficiency 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507164 SCV000602932 uncertain significance Common variable immunodeficiency 3 2019-04-19 criteria provided, single submitter clinical testing The p.Leu132Arg variant (rs146795664) 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 NHLBI GO Exome Sequencing Project with an overall population frequency of 0.04 percent (identified on 5 out of 12,992 chromosomes) and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.213 percent (identified on 112 out of 52,702 chromosomes). The leucine at position 132 is weakly conserved (considering 10 species) (Alamut v.2.8.1) and computational analyses of the effects of the p.Leu132Arg variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Leu132Arg variant with certainty.
Invitae RCV000948976 SCV001095203 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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