ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu)

dbSNP: rs770551610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515583 SCV003439961 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. 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. This variant disrupts the Arg162 amino acid residue in IKZF1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26981933). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects IKZF1 function (PMID: 26981933). ClinVar contains an entry for this variant (Variation ID: 224778). This missense change has been observed in individual(s) with clinical features of IKZF1-related conditions (PMID: 26981933). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 162 of the IKZF1 protein (p.Arg162Leu).
GeneDx RCV002515583 SCV004025870 likely pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; A different missense change at this residue (R162W) has been reported in association with IKZF1-related immune disorder and/or hematologic disease (Hoshino et al., 2016; Winer et al., 2020); This variant is associated with the following publications: (PMID: 35853737, 29461212, 27316315, 26981933, 27939403, 10970879, 32084258)
OMIM RCV000210351 SCV000266390 pathogenic Pancytopenia due to IKZF1 mutations 2016-08-25 no assertion criteria provided literature only

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