ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg)

dbSNP: rs1812147849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268388 SCV001447280 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268388 SCV003786485 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects IKZF1 function (PMID: 31057532). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 987136). This missense change has been observed in individual(s) with clinical features of combined immunodeficiency (PMID: 31057532). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 150 of the IKZF1 protein (p.Cys150Arg).

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