ClinVar Miner

Submissions for variant NM_021803.4(IL21):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00003  dbSNP: rs141748932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216053 SCV001387825 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 40 of the IL21 protein (p.Arg40His). This variant is present in population databases (rs141748932, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IL21-related conditions. ClinVar contains an entry for this variant (Variation ID: 945417). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Baylor Genetics RCV001335107 SCV001528162 uncertain significance IL21-related infantile inflammatory bowel disease 2018-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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